TBC1D24: Difference between revisions

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{{Underlinked|date=May 2014}}
{{Infobox_gene}}
{{Infobox_gene}}
'''TBC1 domain family, member 24''' is a [[protein]] that in humans is encoded by the TBC1D24 [[gene]].<ref name="entrez">
{{cite web | title = Entrez Gene: TBC1 domain family, member 24 | url = https://www.ncbi.nlm.nih.gov/gene/57465 }}</ref>


'''TBC1 domain family, member 24''' is a [[protein]] that in humans is encoded by the TBC1D24 [[gene]].
== Function ==
<ref name="entrez">
{{cite web
| title = Entrez Gene: TBC1 domain family, member 24
| url = https://www.ncbi.nlm.nih.gov/gene/57465
| accessdate = 2014-04-29 <!-- T06:25:12.202978-08:00 -->
}}</ref>


==Function==
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with [[GTPase]]s. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the [[Rab (G-protein)|Rab]] (Ras-related proteins in brain) small GTPases which are involved in the regulation of [[membrane trafficking]]. Mutations in this gene are associated with [[Infantile myoclonic encephalopathy|familial infantile myoclonic epilepsy]]. [[Alternative splicing]] results in multiple transcript variants.


This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].
Mutations in TBC1D24 cause {{SWL|type=mutation_results_in|target=Hereditary hearing loss|label=Hereditary hearing loss}}.<ref>{{cite journal | vauthors = Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ | title = TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss | journal = Human Mutation | volume = 35 | issue = 7 | pages = 819–23 | date = July 2014 | pmid = 24729539 | doi = 10.1002/humu.22557 | pmc = 4267685 }}</ref>
 
Mutations in TBC1D24 cause {{SWL|type=mutation_results_in|target=Hereditary hearing loss|label=Hereditary hearing loss}}.{{Cite journal
| pmid = 24729539
| year = 2014
| author1 = Azaiez
| first1 = H
| title = TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss
| journal = Human Mutation
| pages = 819–23
| last2 = Booth
| first2 = K. T.
| last3 = Bu
| first3 = F
| last4 = Huygen
| first4 = P
| last5 = Shibata
| first5 = S
| last6 = Shearer
| first6 = A. E.
| last7 = Kolbe
| first7 = D
| last8 = Meyer
| first8 = N
| last9 = Black-Ziegelbein
| first9 = E. A.
| last10 = Smith
| first10 = R. J.
| doi = 10.1002/humu.22557
| volume=35
| issue=7
}}


== References ==
== References ==
{{reflist}}
{{reflist}}


== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{Cite journal  
* {{cite journal | vauthors = Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O | title = Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain | journal = DNA Research | volume = 6 | issue = 5 | pages = 329–36 | date = October 1999 | pmid = 10574461 | doi = 10.1093/dnares/6.5.329 }}
| last1 = Hirosawa | first1 = M.
* {{cite journal | vauthors = Fukuda M | title = TBC proteins: GAPs for mammalian small GTPase Rab? | journal = Bioscience Reports | volume = 31 | issue = 3 | pages = 159–68 | date = June 2011 | pmid = 21250943 | doi = 10.1042/BSR20100112 }}
| last2 = Nagase | first2 = T.
* {{cite journal | vauthors = Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J | title = A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 | journal = American Journal of Human Genetics | volume = 87 | issue = 3 | pages = 371–5 | date = September 2010 | pmid = 20797691 | pmc = 2933342 | doi = 10.1016/j.ajhg.2010.08.001 }}
| last3 = Ishikawa | first3 = K.
* {{cite journal | vauthors = Ishibashi K, Kanno E, Itoh T, Fukuda M | title = Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity | journal = Genes to Cells | volume = 14 | issue = 1 | pages = 41–52 | date = January 2009 | pmid = 19077034 | pmc = | doi = 10.1111/j.1365-2443.2008.01251.x }}
| last4 = Kikuno | first4 = R.
* {{cite journal | vauthors = Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F | title = TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy | journal = American Journal of Human Genetics | volume = 87 | issue = 3 | pages = 365–70 | date = September 2010 | pmid = 20727515 | pmc = 2933335 | doi = 10.1016/j.ajhg.2010.07.020 }}
| last5 = Nomura | first5 = N.
| last6 = Ohara | first6 = O.
| title = Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain  
| journal = DNA research : an international journal for rapid publication of reports on genes and genomes
| volume = 6  
| issue = 5  
| pages = 329–336
| year = 1999  
| pmid = 10574461 | doi=10.1093/dnares/6.5.329
}}
*{{Cite journal
| pmid = 21250943
| year = 2011
| author1 = Fukuda
| first1 = M
| title = TBC proteins: GAPs for mammalian small GTPase Rab?
| journal = Bioscience Reports
| volume = 31
| issue = 3
| pages = 159–68
| doi = 10.1042/BSR20100112
}}
*{{Cite journal
| pmid = 20797691
| year = 2010
| author1 = Corbett
| first1 = M. A.
| title = A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
| journal = The American Journal of Human Genetics
| volume = 87
| issue = 3
| pages = 371–5
| last2 = Bahlo
| first2 = M
| last3 = Jolly
| first3 = L
| last4 = Afawi
| first4 = Z
| last5 = Gardner
| first5 = A. E.
| last6 = Oliver
| first6 = K. L.
| last7 = Tan
| first7 = S
| last8 = Coffey
| first8 = A
| last9 = Mulley
| first9 = J. C.
| last10 = Dibbens
| first10 = L. M.
| last11 = Simri
| first11 = W
| last12 = Shalata
| first12 = A
| last13 = Kivity
| first13 = S
| last14 = Jackson
| first14 = G. D.
| last15 = Berkovic
| first15 = S. F.
| last16 = Gecz
| first16 = J
| doi = 10.1016/j.ajhg.2010.08.001
| pmc = 2933342
}}
*{{Cite journal  
| last1 = Ishibashi | first1 = K.
| last2 = Kanno | first2 = E.
| last3 = Itoh | first3 = T.
| last4 = Fukuda | first4 = M.
| title = Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity  
| doi = 10.1111/j.1365-2443.2008.01251.x
| journal = Genes to Cells  
| volume = 14  
| issue = 1  
| pages = 41–52  
| year = 2009  
| pmid = 19077034  
| pmc =  
}}
*{{Cite journal
| pmid = 20727515
| year = 2010
| author1 = Falace
| first1 = A
| title = TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
| journal = The American Journal of Human Genetics
| volume = 87
| issue = 3
| pages = 365–70
| last2 = Filipello
| first2 = F
| last3 = La Padula
| first3 = V
| last4 = Vanni
| first4 = N
| last5 = Madia
| first5 = F
| last6 = De Pietri Tonelli
| first6 = D
| last7 = De Falco
| first7 = F. A.
| last8 = Striano
| first8 = P
| last9 = Dagna Bricarelli
| first9 = F
| last10 = Minetti
| first10 = C
| last11 = Benfenati
| first11 = F
| last12 = Fassio
| first12 = A
| last13 = Zara
| first13 = F
| doi = 10.1016/j.ajhg.2010.07.020
| pmc = 2933335
}}
 
{{refend}}
{{refend}}


{{NLM content}}
{{NLM content}}


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

Revision as of 18:42, 15 May 2018

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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

TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene.[1]

Function

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants.

Mutations in TBC1D24 cause Hereditary hearing loss .[2]

References

  1. ↑ "Entrez Gene: TBC1 domain family, member 24".
  2. ↑ Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ (July 2014). "TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss". Human Mutation. 35 (7): 819–23. doi:10.1002/humu.22557. PMC 4267685. PMID 24729539.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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