ACAN

aggrecan

3 disorders 3 causative 15q26.1 gene with protein product

HGNC:319 Monarch NCBI Gene 176 ENSG00000157766 UniProt P16112 OMIM 155760

Previous symbols: MSK16, CSPG1, AGC1. Aliases: CSPGCP.

Normal function · from ai-gene-review (P16112, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; 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
ACAN-Related Short Stature Spectrum	causative germline	mechanism: Heterozygous ACAN Variants subtype: SEDK; SSOAOD
Osteochondrosis	causative germline	mechanism: Aggrecan G3-Domain Defect in Familial Osteochondritis Dissecans subtype: Osteochondritis Dissecans scoped to subtype: Osteochondritis Dissecans
Spondyloepimetaphyseal Dysplasia Aggrecan Type	causative germline	mechanism: Biallelic ACAN Variants Disrupting Aggrecan Function

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
ACAN-related short stature spectrum MONDO:1060149	AD	Definitive 2025-05-07	ACAN-Related Short Stature Spectrum causative

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