Disease-gene associations mined from literature

Literature associating G6PC3 and severe congenital neutropenia 4

G6PC3 [ENSP00000269097]

Ubiquitous glucose-6-phosphatase catalytic subunit-related protein; Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function; Glucose 6-phosphatases, catalytic

Synonyms:  G6PC3,  G6PC3p,  hG6PC3,  K7ENK1,  K7EQ13 ...

Linkouts:  STRING  Pharos  UniProt  OMIM