Entity Details

Primary name XK
Entity type gene
Source Source Link

Details

PrimaryID7504
RefseqGeneNG_007473
SymbolXK
NameX-linked Kx blood group
ChromosomeX
LocationXp21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1988-07-28
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsXK_HUMAN

GO terms

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GOName
GO:0005215 transporter activity
GO:0005886 plasma membrane
GO:0006865 amino acid transport
GO:0007186 G protein-coupled receptor signaling pathway
GO:0016021 integral component of membrane

Diseases

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Disease IDSourceNameDescription
300842 OMIMMcLeod syndrome (MLS)A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions