Disease-gene associations mined from literature

Literature associating UNC80 and immunodeficiency 34

UNC80 [ENSP00000391088]

Unc-80 homolog (C. elegans); Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.

Synonyms:  UNC80,  UNC80p,  hUNC80,  H3BLU5,  Q8N2C7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM