XK (protein): Difference between revisions
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'''XK''' (also known as '''Kell blood group precursor''') is a [[protein]] found on human [[red blood cells]] and other tissues which is responsible for the Kx [[antigen]] which helps determine a person's [[blood type]]. | |||
==Clinical significance== | |||
The Kx antigen plays a role in matching blood for [[blood transfusion]]s. | |||
Mutation of XK protein may lead to [[McLeod syndrome]],<ref name="pmid19040496">{{cite journal |vauthors=Arnaud L, Salachas F, Lucien N, etal |title=Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome |journal=Transfusion |volume=49 |issue=3 |pages=479–84 |date=March 2009 |pmid=19040496 |doi=10.1111/j.1537-2995.2008.02003.x |url=http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0041-1132&date=2009&volume=49&issue=3&spage=479}}</ref> a multi-system disorder characterized by [[hemolytic anemia]], [[myopathy]], [[acanthocyte|acanthocytosis]], and [[chorea]].<ref>{{cite journal | last1 = Malandrini | first1 = A | last2 = Fabrizi | first2 = GM | last3 = Truschi | first3 = F | last4 = Di Pietro | first4 = G | last5 = Moschini | first5 = F | last6 = Bartalucci | first6 = P | last7 = Berti | first7 = G | last8 = Salvadori | first8 = C | last9 = Bucalossi | first9 = A | displayauthors=8 |title = Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family | journal = Journal of the neurological sciences | volume = 124 | issue = 1 | pages = 89–94 | year = 1994 | pmid = 7931427 | doi = 10.1016/0022-510X(94)90016-7 }}</ref> | |||
<ref>Malandrini A | |||
XK is located on the [[X chromosome]] and absence of the XK protein is an [[Sex linkage|X-linked disease]].<ref>Ho MF | XK is located on the [[X chromosome]] (cytogenetic band Xp21.1) and absence of the XK protein is an [[Sex linkage|X-linked disease]].<ref>{{cite journal | last1 = Ho | first1 = MF | last2 = Monaco | first2 = AP | last3 = Blonden | first3 = LA | last4 = Van Ommen | first4 = GJ | last5 = Affara | first5 = NA | last6 = Ferguson-Smith | first6 = MA | last7 = Lehrach | first7 = H | title = Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21 | journal = American Journal of Human Genetics | volume = 50 | issue = 2 | pages = 317–30 | year = 1992 | pmid = 1734714 | pmc = 1682457 }}</ref> | ||
==Function== | |||
XK is a [[Cell membrane|membrane transport]] protein of unknown action.<ref>{{cite journal | last1 = Jung | first1 = HH | last2 = Russo | first2 = D | last3 = Redman | first3 = C | last4 = Brandner | first4 = S | title = Kell and XK immunohistochemistry in McLeod myopathy | journal = Muscle & nerve | volume = 24 | issue = 10 | pages = 1346–51 | year = 2001 | pmid = 11562915 | doi = 10.1002/mus.1154 }}</ref> | |||
== References == | == References == | ||
{{reflist | {{reflist}} | ||
== External links == | == External links == | ||
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mcleod GeneReviews/NCBI/NIH/UW entry on McLeod Neuroacanthocytosis Syndrome] | |||
* [ | * [https://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/systems_info&system=kell XK] at [[BGMUT]] Blood Group Antigen Gene Mutation Database at [[National Center for Biotechnology Information|NCBI]], [[NIH]] | ||
* {{MeshName|XK+protein,+human}} | |||
{{transfusion medicine}} | {{transfusion medicine}} | ||
[[Category:Blood antigen systems]] | [[Category:Blood antigen systems]] | ||
Revision as of 21:38, 18 September 2017
| XK (protein) | |
|---|---|
| Identifiers | |
| Symbol | XK |
| Alt. symbols | XKR1, Kx, X1k |
| Entrez | 7504 |
| HUGO | 12811 |
| OMIM | 314850 |
| PDB | BAE48708 |
| RefSeq | NM_021083 |
| UniProt | P51811 |
| Other data | |
| Locus | Chr. X p21.2-p21.1 |
XK (also known as Kell blood group precursor) is a protein found on human red blood cells and other tissues which is responsible for the Kx antigen which helps determine a person's blood type.
Clinical significance
The Kx antigen plays a role in matching blood for blood transfusions.
Mutation of XK protein may lead to McLeod syndrome,[1] a multi-system disorder characterized by hemolytic anemia, myopathy, acanthocytosis, and chorea.[2]
XK is located on the X chromosome (cytogenetic band Xp21.1) and absence of the XK protein is an X-linked disease.[3]
Function
XK is a membrane transport protein of unknown action.[4]
References
- ↑ Arnaud L, Salachas F, Lucien N, et al. (March 2009). "Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome". Transfusion. 49 (3): 479–84. doi:10.1111/j.1537-2995.2008.02003.x. PMID 19040496.
- ↑ Malandrini, A; Fabrizi, GM; Truschi, F; Di Pietro, G; Moschini, F; Bartalucci, P; Berti, G; Salvadori, C; et al. (1994). "Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family". Journal of the neurological sciences. 124 (1): 89–94. doi:10.1016/0022-510X(94)90016-7. PMID 7931427.
- ↑ Ho, MF; Monaco, AP; Blonden, LA; Van Ommen, GJ; Affara, NA; Ferguson-Smith, MA; Lehrach, H (1992). "Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21". American Journal of Human Genetics. 50 (2): 317–30. PMC 1682457. PMID 1734714.
- ↑ Jung, HH; Russo, D; Redman, C; Brandner, S (2001). "Kell and XK immunohistochemistry in McLeod myopathy". Muscle & nerve. 24 (10): 1346–51. doi:10.1002/mus.1154. PMID 11562915.
External links
- GeneReviews/NCBI/NIH/UW entry on McLeod Neuroacanthocytosis Syndrome
- XK at BGMUT Blood Group Antigen Gene Mutation Database at NCBI, NIH
- XK+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)