XK (protein)

Last updated
XK (protein)
Identifiers
SymbolXK
Alt. symbolsXKR1, 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
Search for
Structures Swiss-model
Domains InterPro

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

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]

Clinical diagnostic

Clinical testing in patient care for Kx antigen follows published minimum quality and operational requirements, [4] similar to red cell genotyping for any of the other recognized blood group systems. Molecular analysis can identify gene variants (alleles) that may affect Kx antigen expression on the red cell membrane.

Function

XK is a membrane transport protein of unknown action. [5]

References

  1. ↑ Arnaud L, Salachas F, Lucien N, et al. (March 2009). "Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome". Transfusion. 49 (3): 479–84. doi:10.1111/j.1537-2995.2008.02003.x. PMID   19040496. S2CID   27198922.
  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. S2CID   27859436.
  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. PMC   1682457 . PMID   1734714.
  4. ↑ "Association for the Advancement of Blood & Biotherapies (AABB). (2025). Standards for molecular testing for red cell, platelet, and neutrophil antigens, 7th ed. (ISBN: 978-1-56395-516-7)".
  5. ↑ 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. S2CID   44749645.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.