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More info on XK (protein)

XK (protein): Wikis

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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. 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. [1]

XK is located on the X chromosome and absence of the XK protein is an X-linked disease.[2] XK is a membrane transport protein of unknown action.[3]

References

  1. ^ 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
  2. ^ 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
  3. ^ 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

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