Medicine:XK (protein)
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
| XK (protein) | |
|---|---|
| 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 |
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.[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]
Function
XK is a membrane transport protein of unknown action.[4]
References
- ↑ "Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome". Transfusion 49 (3): 479–84. March 2009. doi:10.1111/j.1537-2995.2008.02003.x. PMID 19040496.
- ↑ 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.
- ↑ Ho, MF; Monaco, AP; Blonden, LA; Van Ommen, GJ; Affara, NA; Ferguson-Smith, MA; Lehrach, H (1992). "Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21". American Journal of Human Genetics 50 (2): 317–30. PMID 1734714.
- ↑ Jung, HH; Russo, D; Redman, C; Brandner, S (2001). "Kell and XK immunohistochemistry in McLeod myopathy". Muscle & Nerve 24 (10): 1346–51. doi:10.1002/mus.1154. PMID 11562915.
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 US National Library of Medicine Medical Subject Headings (MeSH)
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