CPT1A

carnitine palmitoyltransferase 1A

2 disorders 1 causative 1 no genetic record 11q13.3 gene with protein product

HGNC:2328 Monarch NCBI Gene 1374 ENSG00000110090 UniProt P50416 OMIM 600528

Previous symbols: CPT1. Aliases: CPT1-L, L-CPT1.

Normal function · from ai-gene-review (P50416, 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
Carnitine Palmitoyltransferase 1A Deficiency	causative CLINGEN: definitive	mechanism: Reduced CPT1A catalytic activity
Idiopathic Pulmonary Fibrosis	no genetic record	mechanism: AT2 fatty-acid oxidation impairment

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
carnitine palmitoyl transferase 1A deficiency MONDO:0009705	AR	Definitive 2018-01-23	Carnitine Palmitoyltransferase 1A Deficiency causative

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