XK (protein)
XK (protein) is a protein that in humans is encoded by the XK gene. It is a type of membrane transport protein that plays a crucial role in the human body.
Function[edit | edit source]
The XK protein is a component of the Kell blood group system, and it is associated with the Kell glycoprotein. The Kell glycoprotein functions as an endopeptidase that cleaves peptide bonds at the C-terminal side of a phenylalanine or tyrosine residue. The XK protein is a type of transporter that likely plays a role in ion transport across membranes.
Clinical significance[edit | edit source]
Mutations in the XK gene can lead to McLeod syndrome, a rare X-linked recessive disorder characterized by hemolytic anemia, neuromuscular abnormalities, and late-onset cardiomyopathy. The syndrome is caused by a lack of the Kx antigen on red blood cells, which is due to a defect in the XK protein.
Structure[edit | edit source]
The XK protein is a type of transmembrane protein that spans the membrane of the cell. It has a large extracellular domain and a smaller intracellular domain. The protein is highly conserved in evolution, suggesting that it plays a fundamental role in cellular function.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD