Disease-gene associations mined from literature

Literature associating G6PC and severe congenital neutropenia 4

G6PC [ENSP00000253801]

Glucose-6-phosphatase, catalytic subunit; Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels; Belongs to the glucose-6-phosphatase family.

Synonyms:  G6PC,  G6PCp,  hG6PC,  A0A024R1U9,  K7ELS6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM