Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

ACCPN

Chr 15AR

agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)

ACCPN encodes a protein involved in axon guidance and neuronal development. Mutations cause agenesis of the corpus callosum with peripheral neuropathy, a disorder affecting both central nervous system development and peripheral nerve function. This condition follows autosomal recessive inheritance.

GeneReviewsOMIMResearchSummary from OMIM
LOFmechanismAR1 OMIM phenotype
📖
GeneReview available — ACCPN
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ACCPN?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACCPN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found