G6PC1

glucose-6-phosphatase catalytic subunit 1

1 disorder 1 causative 17q21.31 gene with protein product

HGNC:4056 Monarch NCBI Gene 2538 ENSG00000131482 UniProt P35575 OMIM 613742

Previous symbols: G6PT, G6PC. Aliases: GSD1a.

Curated summary · agent-written · kb/genes/curated/hgnc_4056.md

All 12 claims checked against the KB draft

G6PC1 across dismech

G6PC1 (glucose-6-phosphatase catalytic subunit 1) is named by 1 disorder entry.

Normal function

ai-gene-review gives G6PC1's core molecular function as glucose-6-phosphatase activity, located in the endoplasmic reticulum membrane and acting in gluconeogenesis; and glucose homeostasis.

Causative records

Glycogen Storage Disease Type I types G6PC1 as causative, with variant origin germline, and ClinGen rates the gene definitive for glycogen storage disease I. The gene sits on the node Impaired glucose-6-phosphate hydrolysis and fasting hypoglycemia.

Where the layers agree

The KB's mechanism nodes for G6PC1 and the ai-gene-review core functions share 2 GO process terms by exact identifier: gluconeogenesis; and glucose homeostasis. The KB node also records a decrease in glycogen catabolic process, which the review keeps as a broader, non-core reading of the enzyme's place at the end of glycogenolysis.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (P35575, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Glycogen Storage Disease Type I	causative germline CLINGEN: definitive	mechanism: Impaired glucose-6-phosphate hydrolysis and fasting hypoglycemia scoped to subtype: GSD Ia (glucose-6-phosphatase deficiency)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
glycogen storage disease I MONDO:0002413	AR	Definitive 2024-09-27	Glycogen Storage Disease Type I causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.