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{{Infobox_gene}}  
{{Infobox_gene}}  
'''Fatty acid 2-hydroxylase''' is a [[protein]] that in humans is encoded by the ''FA2H'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Fatty acid 2-hydroxylase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=79152| accessdate = 2011-12-30 <!-- T01:54:36.835-08:00 --> }}</ref>
'''Fatty acid 2-hydroxylase''' is a [[protein]] that in humans is encoded by the ''FA2H'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Fatty acid 2-hydroxylase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=79152| access-date = 2011-12-30 <!-- T01:54:36.835-08:00 --> }}</ref>


== Function ==
== Function ==
Line 10: Line 10:
== Clinical significance ==
== Clinical significance ==


Mutations in this gene have been associated with [[leukodystrophy]] dysmyelinating with [[hereditary spastic paraplegia|spastic paraparesis]] with or without [[dystonia]]<ref name="entrez" /> as well as fatty acid hydroxylase-associated neurodegeneration.<ref name="pmid22146942">{{cite journal |vauthors=Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Blackstone C, Tifft C, Boerkoel CF, Gahl WA | title = Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration | journal = Eur. J. Hum. Genet. | volume = 20| issue = 4| pages = 476–9|date=December 2011 | pmid = 22146942 | doi = 10.1038/ejhg.2011.222 }}</ref>
Mutations in this gene have been associated with [[leukodystrophy]] dysmyelinating with [[hereditary spastic paraplegia|spastic paraparesis]] with or without [[dystonia]]<ref name="entrez" /> as well as fatty acid hydroxylase-associated neurodegeneration.<ref name="pmid22146942">{{cite journal | vauthors = Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA | title = Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration | journal = European Journal of Human Genetics | volume = 20 | issue = 4 | pages = 476–9 | date = April 2012 | pmid = 22146942 | pmc = 3306865 | doi = 10.1038/ejhg.2011.222 }}</ref>


==References==
FA2H has been shown to modulate [[Cellular differentiation|cell differentiation]] ''[[in vitro]]''. FA2H is may be a [[Tetrahydrocannabinol|Δ<sup>9</sup>-THC]]-regulated gene, as Δ<sup>9</sup>-THC induces differentiation signal(s) in poorly differentiated [[MDA-MB 231|MDA-MB-231]] cells.<ref>{{cite journal | vauthors = Takeda S, Harada M, Su S, Okajima S, Miyoshi H, Yoshida K, Nishimura H, Okamoto Y, Amamoto T, Watanabe K, Omiecinski CJ, Aramaki H | title = Induction of the fatty acid 2-hydroxylase (FA2H) gene by Δ(9)-tetrahydrocannabinol in human breast cancer cells | journal = The Journal of Toxicological Sciences | volume = 38 | issue = 2 | pages = 305–8 | date = 2013 | pmid = 23535410 | pmc = 4018719 }}</ref>
 
== References ==
  {{reflist}}
  {{reflist}}


==Further reading ==
==Further reading ==
  {{refbegin | 2}}
  {{refbegin | 2}}
*{{Cite journal
* {{cite journal | vauthors = Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H | title = The human FA2H gene encodes a fatty acid 2-hydroxylase | journal = The Journal of Biological Chemistry | volume = 279 | issue = 47 | pages = 48562–8 | date = November 2004 | pmid = 15337768 | doi = 10.1074/jbc.M406649200 }}
| last1 = Alderson | first1 = N. L.
* {{cite journal | vauthors = Uchida Y, Hama H, Alderson NL, Douangpanya S, Wang Y, Crumrine DA, Elias PM, Holleran WM | title = Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation | journal = The Journal of Biological Chemistry | volume = 282 | issue = 18 | pages = 13211–9 | date = May 2007 | pmid = 17355976 | doi = 10.1074/jbc.M611562200 }}
| last2 = Rembiesa | first2 = B. M.
* {{cite journal | vauthors = Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH | title = A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23 | journal = Neurology | volume = 71 | issue = 4 | pages = 248–52 | date = July 2008 | pmid = 18463364 | doi = 10.1212/01.wnl.0000319610.29522.8a }}
| last3 = Walla | first3 = M. D.
* {{cite journal | vauthors = Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O | title = Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia | journal = American Journal of Human Genetics | volume = 83 | issue = 5 | pages = 643–8 | date = November 2008 | pmid = 19068277 | pmc = 2668027 | doi = 10.1016/j.ajhg.2008.10.010 }}
| last4 = Bielawska | first4 = A.
* {{cite journal | vauthors = Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK | title = Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging | journal = PLoS Genetics | volume = 5 | issue = 10 | pages = e1000685 | date = October 2009 | pmid = 19834535 | pmc = 2752811 | doi = 10.1371/journal.pgen.1000685 | editor1-last = Gibson | editor1-first = Greg }}
| last5 = Bielawski | first5 = J.
* {{cite journal | vauthors = Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D, Engert JC, Genest J | title = Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects | journal = European Journal of Human Genetics | volume = 18 | issue = 3 | pages = 342–7 | date = March 2010 | pmid = 19844255 | pmc = 2824775 | doi = 10.1038/ejhg.2009.157 }}
| last6 = Hama | first6 = H.
* {{cite journal | vauthors = Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH | title = Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) | journal = Human Mutation | volume = 31 | issue = 4 | pages = E1251-60 | date = April 2010 | pmid = 20104589 | doi = 10.1002/humu.21205 }}
| title = The Human FA2H Gene Encodes a Fatty Acid 2-Hydroxylase
* {{cite journal | vauthors = Dan P, Edvardson S, Bielawski J, Hama H, Saada A | title = 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase | journal = Lipids in Health and Disease | volume = 10 | pages = 84 | date = May 2011 | pmid = 21599921 | pmc = 3107802 | doi = 10.1186/1476-511X-10-84 }}
| doi = 10.1074/jbc.M406649200
| journal = Journal of Biological Chemistry
| volume = 279
| issue = 47
| pages = 48562–48568
| year = 2004
| pmid = 15337768
}}
*{{Cite journal
| last1 = Uchida | first1 = Y.
| last2 = Hama | first2 = H.
| last3 = Alderson | first3 = N. L.
| last4 = Douangpanya | first4 = S.
| last5 = Wang | first5 = Y.
| last6 = Crumrine | first6 = D. A.
| last7 = Elias | first7 = P. M.
| last8 = Holleran | first8 = W. M.
| doi = 10.1074/jbc.M611562200
| title = Fatty Acid 2-Hydroxylase, Encoded by FA2H, Accounts for Differentiation-associated Increase in 2-OH Ceramides during Keratinocyte Differentiation
| journal = Journal of Biological Chemistry
| volume = 282
| issue = 18
| pages = 13211–13219
| year = 2007
| pmid = 17355976
}}
*{{Cite journal
| last1 = Dick | first1 = K. J.
| last2 = Al-Mjeni | first2 = R.
| last3 = Baskir | first3 = W.
| last4 = Koul | first4 = R.
| last5 = Simpson | first5 = M. A.
| last6 = Patton | first6 = M. A.
| last7 = Raeburn | first7 = S.
| last8 = Crosby | first8 = A. H.
| doi = 10.1212/01.wnl.0000319610.29522.8a
| title = A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
| journal = Neurology
| volume = 71
| issue = 4
| pages = 248–252
| year = 2008
| pmid = 18463364
}}
*{{Cite journal
| last1 = Edvardson | first1 = S.
| last2 = Hama | first2 = H.
| last3 = Shaag | first3 = A.
| last4 = Gomori | first4 = J. M.
| last5 = Berger | first5 = I.
| last6 = Soffer | first6 = D.
| last7 = Korman | first7 = S. H.
| last8 = Taustein | first8 = I.
| last9 = Saada | first9 = A.
| last10 = Elpeleg | first10 = O.
| title = Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
| doi = 10.1016/j.ajhg.2008.10.010
| journal = The American Journal of Human Genetics
| volume = 83
| issue = 5
| pages = 643–648
| pmc = 2668027
| year = 2008
| pmid = 19068277
}}
*{{Cite journal
| last1 = Wheeler | first1 = H. E.
| last2 = Metter | first2 = E. J.
| last3 = Tanaka | first3 = T.
| last4 = Absher | first4 = D.
| last5 = Higgins | first5 = J.
| last6 = Zahn | first6 = J. M.
| last7 = Wilhelmy | first7 = J.
| last8 = Davis | first8 = R. W.
| last9 = Singleton | first9 = A.
| last10 = Myers | first10 = R. M.
| last11 = Ferrucci | first11 = L.
| last12 = Kim | first12 = S. K.
| editor1-last = Gibson
| editor1-first = Greg
| title = Sequential Use of Transcriptional Profiling, Expression Quantitative Trait Mapping, and Gene Association Implicates MMP20 in Human Kidney Aging
| doi = 10.1371/journal.pgen.1000685
| journal = PLoS Genetics
| volume = 5
| issue = 10
| pages = e1000685
| pmc = 2752811
| year = 2009
| pmid = 19834535
}}
*{{Cite journal
| last1 = Dastani | first1 = Z.
| last2 = Pajukanta | first2 = P. I.
| last3 = Marcil | first3 = M.
| last4 = Rudzicz | first4 = N.
| last5 = Ruel | first5 = I.
| last6 = Bailey | first6 = S. D.
| last7 = Lee | first7 = J. C.
| last8 = Lemire | first8 = M.
| last9 = Faith | first9 = J.
| last10 = Platko | first10 = J.
| last11 = Rioux | first11 = J.
| last12 = Hudson | first12 = T. J.
| last13 = Gaudet | first13 = D.
| last14 = Engert | first14 = J. C.
| last15 = Genest | first15 = J.
| title = Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects
| doi = 10.1038/ejhg.2009.157
| journal = European Journal of Human Genetics
| volume = 18
| issue = 3
| pages = 342–347
| pmc = 2824775
| year = 2009
| pmid = 19844255
}}
*{{Cite journal
| last1 = Dick | first1 = K. J.
| last2 = Eckhardt | first2 = M.
| last3 = Paisán-Ruiz | first3 = C.
| last4 = Alshehhi | first4 = A. A.
| last5 = Proukakis | first5 = C.
| last6 = Sibtain | first6 = N. A.
| last7 = Maier | first7 = H.
| last8 = Sharifi | first8 = R.
| last9 = Patton | first9 = M. A.
| last10 = Bashir
| doi = 10.1002/humu.21205 | first10 = W.
| last11 = Koul | first11 = R.
| last12 = Raeburn | first12 = S.
| last13 = Gieselmann | first13 = V.
| last14 = Houlden | first14 = H.
| last15 = Crosby | first15 = A. H.
| title = Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
| journal = Human Mutation
| volume = 31
| issue = 4
| pages = E1251–E1260
| year = 2010
| pmid = 20104589
}}
*{{Cite journal
| last1 = Dan | first1 = P.
| last2 = Edvardson | first2 = S.
| last3 = Bielawski | first3 = J.
| last4 = Hama | first4 = H.
| last5 = Saada | first5 = A.
| doi = 10.1186/1476-511X-10-84
| title = 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
| journal = Lipids in Health and Disease
| volume = 10
| pages = 84
| year = 2011
| pmc = 3107802
| pmid = 21599921
}}
{{refend}}
{{refend}}


{{gene-16-stub}}
{{gene-16-stub}}

Latest revision as of 09:23, 10 January 2019

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.[1]

Function

This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups.[1]

File:2-OH sphingolipid synthesis.pdf
Mechanism of 2-hydroxylated sphingolipid generation. Essentially they are generated like their non-hydroxylated counterparts. The only difference is that fatty acids are hydroxylated by fatty acid 2-hydroxylase (FA2H) before being incorporated into dihydroceramide by ceramide synthases (CerS).

Clinical significance

Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia[1] as well as fatty acid hydroxylase-associated neurodegeneration.[2]

FA2H has been shown to modulate cell differentiation in vitro. FA2H is may be a Δ9-THC-regulated gene, as Δ9-THC induces differentiation signal(s) in poorly differentiated MDA-MB-231 cells.[3]

References

  1. ↑ 1.0 1.1 1.2 "Entrez Gene: Fatty acid 2-hydroxylase". Retrieved 2011-12-30.
  2. ↑ Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA (April 2012). "Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration". European Journal of Human Genetics. 20 (4): 476–9. doi:10.1038/ejhg.2011.222. PMC 3306865. PMID 22146942.
  3. ↑ Takeda S, Harada M, Su S, Okajima S, Miyoshi H, Yoshida K, Nishimura H, Okamoto Y, Amamoto T, Watanabe K, Omiecinski CJ, Aramaki H (2013). "Induction of the fatty acid 2-hydroxylase (FA2H) gene by Δ(9)-tetrahydrocannabinol in human breast cancer cells". The Journal of Toxicological Sciences. 38 (2): 305–8. PMC 4018719. PMID 23535410.

Further reading

Retrieved from "https://www.wikidoc.org/index.php?title=FA2H&oldid=1524737"