DISEASES

Disease-gene associations mined from literature

Literature associating ISYNA1 and cone-rod dystrophy 2

ISYNA1 [ENSP00000337746]

Myo-inositol 1-phosphate synthase A1; Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds.

Synonyms:  ISYNA1,  ISYNA1p,  hISYNA1,  G3V1R9,  ISYNA1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM