XK (protein)
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XK (protein)
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| Identifiers | |
| Symbol(s) | XK XKR1, Kx, X1k |
| Entrez | 7504 |
| OMIM | 314850 |
| RefSeq | NM_021083 |
| UniProt | P51811 |
| PDB | BAE48708 |
| 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]
[edit] References
Mendelian Inheritance in Man (OMIM) 314850- OMIM entry on XK protein
- ^ 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
- ^ 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
- ^ 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
