XK (protein)

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.

## Contents

* 1 Clinical significance
* 2 Function
* 3 References
* 4 External links

## 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

1. ↑ "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.
2. ↑ 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.
3. ↑ 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.
4. ↑ 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)

* v
* t
* e

Transfusion medicine

General concepts|

* Apheresis (plasmapheresis, plateletpheresis, leukapheresis)
* Blood transfusion
* Blood typing
* Coombs test (direct and indirect)
* Cross-matching
* Exchange transfusion
* International Society of Blood Transfusion
* Intraoperative blood salvage
* ISBT 128
* Transfusion reactions

Blood group systems /
blood types|

* ABO
* Secretor status
* Chido-Rodgers
* Colton
* Cromer
* Diego
* Dombrock
* Duffy
* Er
* FORS
* Gerbich
* GIL
* GLOB
* Hh
* Ii
* Indian
* JR
* JMH
* Kell (Xk)
* Kidd
* Knops
* Lan
* Lewis
* Lutheran
* LW
* MNS
* OK
* P
* Raph
* Rh and RHAG
* Scianna
* T-Tn
* Vel
* Xg
* Yt
* Other

Blood products /
blood donation|

* Whole blood
* Platelets
* Red blood cells
* Plasma / Fresh frozen plasma / PF24 (Cryoprecipitate \+ Cryosupernatant)
* Blood substitutes

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