DISEASES

Disease-gene associations mined from literature

Literature associating GUCA1B and Leber congenital amaurosis 1

GUCA1B [ENSP00000230361]

Guanylyl cyclase-activating protein 2; Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity). This Ca(2+)-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor response and recovery of response in bright light (By similarity).

Synonyms:  GUCA1B,  GUCA1Bp,  hGUCA1B,  Q9UMX6,  Q9UMX6p ...

Linkouts:  STRING  Pharos  UniProt  OMIM