XK (protein)
| XK (protein) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | XK | ||||||
| Alt. symbols | XKR1, Kx, X1k | ||||||
| NCBI gene | 7504 | ||||||
| HGNC | 12811 | ||||||
| OMIM | 314850 | ||||||
| PDB | BAE48708 | ||||||
| RefSeq | NM_021083 | ||||||
| UniProt | P51811 | ||||||
| Other data | |||||||
| Locus | Chr. Xp21.2-p21.1 | ||||||
| |||||||
XK(also known asKell blood group precursor) is aproteinfound on humanred blood cellsand other tissues which is responsible for the Kxantigenwhich helps determine a person'sblood type.
Clinical significance[edit]
The Kx antigen plays a role in matching blood forblood transfusions.[citation needed]
Mutation of XK protein may lead toMcLeod syndrome,[1]a multi-system disorder characterized byhemolytic anemia,myopathy,acanthocytosis,andchorea.[2]
XK is located on theX chromosome(cytogenetic band Xp21.1) and absence of the XK protein is anX-linked disease.[3]
Function[edit]
XK is amembrane transportprotein of unknown action.[4]
References[edit]
- ^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.PMID19040496.S2CID27198922.
- ^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.PMID7931427.S2CID27859436.
- ^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.PMC1682457.PMID1734714.
- ^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.PMID11562915.S2CID44749645.
External links[edit]
- GeneReviews/NCBI/NIH/UW entry on McLeod Neuroacanthocytosis Syndrome
- XKatBGMUTBlood Group Antigen Gene Mutation Database atNCBI,NIH
- XK+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)