AMACR

alpha-methylacyl-CoA racemase

2 disorders 1 causative 1 no genetic record 5p13.2 gene with protein product

HGNC:451 Monarch NCBI Gene 23600 ENSG00000242110 UniProt Q9UHK6 OMIM 604489

Aliases: RACE, P504S.

Normal function · from ai-gene-review (Q9UHK6, 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
Alpha-Methylacyl-CoA Racemase Deficiency	causative germline loss of function	mechanism: AMACR Racemase Loss of Function
Inborn Disorder of Bile Acid Synthesis	no genetic record	mechanism: Hepatic Bile Acid Synthetic Enzyme Deficiency subtype: BASD Type 4

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
alpha-methylacyl-CoA racemase deficiency MONDO:0013681	AR	Definitive 2025-12-05	Alpha-Methylacyl-CoA Racemase Deficiency causative

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