DISEASES

Disease-gene associations mined from literature

Literature associating GNPDA1 and Griscelli syndrome type 3

GNPDA1 [ENSP00000423674]

Glucosamine-6-phosphate isomerase 1; Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity); Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.

Synonyms:  GNPDA1,  GNPDA1p,  hGNPDA1,  D6R917,  D6R9P4 ...

Linkouts:  STRING  Pharos  UniProt