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The XK gene at Xp21.1 codes for the 444 amino acid pro-peptide of membrane transport protein XK which may be involved in the sodium-dependent transport of neutral amino acids or oligopeptides and is a supportive protein for the Kell antigen. It was first recognised in the context that the weak expression of Kell blood group red cell antigens was X-linked.

Mcleod syndrome (Mcleod phenomenon, MCLDS, MLS), one of the neuroacanthocytosis syndromes, is caused by mutations of XK and is characterised by the phenotype:

  • Acanthocytes in the peripheral blood film with risk of haemolytic anaemia if blood transfusion sensitisation
  • X linked
  • Late onset:
    • Peripheral neuropathy
    • Cardiomyopathy
    • Muscular dystrophy
    • Limb chorea and facial tics
    • Epilepsy
    • Dementia
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