DISEASES

Disease-gene associations mined from literature

Literature associating PDE6A and Leber congenital amaurosis 4

PDE6A [ENSP00000255266]

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; This protein participates in processes of transmission and amplification of the visual signal; Belongs to the cyclic nucleotide phosphodiesterase family.

Synonyms:  PDE6A,  PDE6Ap,  hPDE6A,  F1T0K3,  P16499 ...

Linkouts:  STRING  Pharos  UniProt  OMIM