ACSM2A

Chr 16

acyl-CoA synthetase medium chain family member 2A

Also known as: A-923A4.1, ACSM2

NCBI Gene: 123876 ENSG00000183747 UniProt: Q08AH3 OMIM: 614358

The protein encoded by this gene is a mitochondrial acyl-coenzyme A synthetase that activates medium-chain fatty acids (C4-C10) for metabolism and participates in detoxification of xenobiotics like benzoate. Mutations in ACSM2A cause autosomal recessive spastic paraplegia with intellectual disability, typically presenting in early childhood with progressive spasticity and developmental delays. The gene shows low constraint against loss-of-function variants (high LOEUF score), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.36

LOEUF

Mechanism· predicted