XK_(protein)
XK (protein)
Protein-coding gene in the species Homo sapiens
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.
Quick Facts Identifiers, Symbol ...
XK (protein) | |||||||
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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. X p21.2-p21.1 | ||||||
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The Kx antigen plays a role in matching blood for blood transfusions.[citation needed]
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]
XK is a membrane transport protein of unknown action.[4]
- 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. S2CID 27859436.
- 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 U.S. National Library of Medicine Medical Subject Headings (MeSH)