ACSS1

Chr 20

acyl-CoA synthetase short chain family member 1

Also known as: ACAS2L, ACECS1, AceCS2L

NCBI Gene: 84532 ENSG00000154930 UniProt: Q9NUB1 OMIM: 614355

This gene encodes a mitochondrial acetyl-CoA synthetase that catalyzes the conversion of acetate to acetyl-CoA for the tricarboxylic acid cycle and provides fuel for thermogenesis under ketogenic conditions when carbohydrate availability is insufficient. The gene is tolerant to loss-of-function variants (pLI near 0, LOEUF 0.759), and no established Mendelian diseases have been definitively linked to ACSS1 mutations in current clinical practice.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.76

LOEUF

Multiple*

Mechanism· predicted