CD59 gene

CD59 molecule (CD59 blood group)

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase.

The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.

From NCBI Gene:

  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy

From UniProt:

Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59): An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia. [MIM:612300]

Cytogenetic Location: 11p13, which is the short (p) arm of chromosome 11 at position 13

Molecular Location: base pairs 33,703,010 to 33,736,479 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 11p13, which is the short (p) arm of chromosome 11 at position 13
  • 1F5
  • 16.3A5
  • EJ16
  • EJ30
  • EL32
  • G344
  • HRF-20
  • HRF20
  • MAC-IP
  • MEM43
  • MIC11
  • MIN1
  • MIN2
  • MIN3
  • MIRL
  • MSK21
  • p18-20