AAH36019.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
X-linked Kx blood group (McLeod syndrome)
NCBI Official Synonym Full Names
X-linked Kx blood group
NCBI Protein Information
membrane transport protein XK; Kx antigen; neurocanthocytosis; neuroacanthocytosis; XK-related protein 1; kell complex 37 kDa component; Kell blood group precursor (McLeod phenotype); XK, Kell blood group complex subunit (McLeod syndrome)
UniProt Protein Name
Membrane transport protein XK
UniProt Synonym Protein Names
Kell complex 37 kDa component; Kx antigen; XK-related protein 1
UniProt Synonym Gene Names
UniProt Entry Name
XK_HUMAN
NCBI Summary for 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]
UniProt Comments for XK
XK: May be involved in sodium-dependent transport of neutral amino acids or oligopeptides. Defects in XK are the cause of McLeod syndrome (MLS). It is an X-linked multisystem disorder characterized by late onset abnormalities in the neuromuscular and hematopoietic systems. Belongs to the XK family.
Protein type: Cell surface; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: Xp21.1
Cellular Component: integral to membrane
Molecular Function: protein binding; transporter activity
Biological Process: cellular calcium ion homeostasis; myelination; transport; amino acid transport; regulation of axon diameter; skeletal muscle fiber development; regulation of cell size
Disease: Mcleod Syndrome
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Products associated with anti-XK antibody
Diseases associated with anti-XK antibody
Organs/Tissues associated with anti-XK antibody
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