XK (protein)
From Infogalactic: the planetary knowledge core
| 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.
Clinical significance
The Kx antigen plays a role in matching blood for blood transfusions.
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 and absence of the XK protein is an X-linked disease.[3]
Function
XK is a membrane transport protein of unknown action.[4]
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 US National Library of Medicine Medical Subject Headings (MeSH)
