DISEASES

Disease-gene associations mined from literature

Literature associating NUCB1 and autosomal dominant sensory ataxia 1

NUCB1 [ENSP00000385923]

Nucleobindin-1; Major calcium-binding protein of the Golgi which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates alpha subunits of guanine nucleotide-binding proteins (G proteins) (By similarity).

Synonyms:  NUCB1,  NUCB1p,  hNUCB1,  C9J3C1,  C9JBD3 ...

Linkouts:  STRING  Pharos  UniProt