XK

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

Description

X-linked Kx blood group

Protein family

Blood group antigen proteins, Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters

Chromosome

X:p21.1 (37685791 - 37732130)

Ensembl ID

ENSG00000047597  (ver. 99.38)

Orthologs

Mouse Xk: ENSMUSG00000015342

UniProt

P51811

neXtProt

NX_P51811

Human splice variants
Mouse splice variants