Curated summary · agent-written · kb/genes/curated/hgnc_4061.md

All 17 claims checked against the KB draft

SLC37A4 across dismech

SLC37A4 (solute carrier family 37 member 4) is named by 2 disorder entries, including Glycogen Storage Disease Type I.

Normal function

ai-gene-review gives SLC37A4's core molecular functions as glucose 6-phosphate:phosphate antiporter activity; and glucose-6-phosphate transmembrane transporter activity, in the endoplasmic reticulum membrane, acting in glucose homeostasis; and glucose-6-phosphate transport. The upstream review is being updated to merge the two transporter terms, the second being the parent of the first.

Causative records

In Glycogen Storage Disease Type I the record is causative with variant origin germline. The gene sits on 2 nodes there, including Neutropenia and neutrophil dysfunction in GSD Ib, which carries the GSD Ib-specific neutrophil arm of the disease.

Congenital Disorder of Glycosylation, Type IIw records the gene as causative with variant origin de novo, on the node Loss of the G6PT1 C-terminal ER Retrieval Motif.

Where the layers disagree

ClinGen classifies SLC37A4 for 0 diseases in the pinned snapshot. The KB and the review share 1 GO process term by exact identifier (glucose homeostasis): the KB annotates the pathway-level processes the transporter feeds, while the review annotates the transport step itself.

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 (O43826, 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
Congenital Disorder of Glycosylation, Type IIw	causative de novo loss of function	mechanism: Loss of the G6PT1 C-terminal ER Retrieval Motif
Glycogen Storage Disease Type I	causative germline	mechanism: Impaired glucose-6-phosphate hydrolysis and fasting hypoglycemia; Neutropenia and neutrophil dysfunction in GSD Ib scoped to subtype: GSD Ib (glucose-6-phosphate transporter deficiency)