• Source: XK (protein)

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, a multi-system disorder characterized by hemolytic anemia, myopathy, acanthocytosis, and chorea.
XK is located on the X chromosome (cytogenetic band Xp21.1) and absence of the XK protein is an X-linked disease.




Function


XK is a membrane transport protein of unknown action.




References






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 U.S. National Library of Medicine Medical Subject Headings (MeSH)

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