XK (protein)

XK (protein)

Protein
Name=XK (protein)


caption=
Symbol=XK
AltSymbols=XKR1, Kx, X1k
HGNCid=12811
Chromosome=X
Arm=p
Band=21.2
LocusSupplementaryData= -p21.1
ECnumber=
OMIM=314850
EntrezGene=7504
RefSeq=NM_021083
UniProt=P51811
PDB=BAE48708

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. The Kx antigen plays a role in matching blood for blood transfusions. Absence of XK protein leads to McLeod syndrome, a multi-system disorder characterized by hemolytic anemia, myopathy, acanthocytosis, and chorea. [Malandrini A, Fabrizi GM, Truschi F, Di Pietro G, Moschini F, Bartalucci P, Berti G, Salvadori C, Bucalossi A, Guazzi G. "Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family." J Neurol Sci. 1994 Jun;124(1):89-94. PMID 7931427]

XK is located on the X chromosome and absence of the XK protein is an X-linked disease. [Ho MF, Monaco AP, Blonden LA, van Ommen GJ, Affara NA, Ferguson-Smith MA, Lehrach H. "Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21." Am J Hum Genet. 1992 Feb;50(2):317-30. PMID 1734714] XK is a membrane transport protein of unknown action. [Jung HH, Russo D, Redman C, Brandner S. "Kell and XK immunohistochemistry in McLeod myopathy." Muscle Nerve. 2001 Oct;24(10):1346-51. PMID 11562915]

References

External links

* [http://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 NCBI, NIH


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