Entrez Summary: This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
UniProt Summary: Has acyl-CoA ligase activity for long-chain and very- long-chain fatty acids. Does not exhibit fatty acid transport activity (By similarity). {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
AMP-binding
GO Terms
very long-chain fatty acid-CoA ligase activity
long-chain fatty acid transporter activity
long-chain fatty acid-CoA ligase activity
long-chain fatty acid transport
fatty acid transport
mitochondrial membrane
long-chain fatty acid metabolic process
monocarboxylic acid transport
organic acid transport
carboxylic acid transport
lipid transport
lipid localization
fatty acid metabolic process
organic anion transport
monocarboxylic acid metabolic process
anion transport
carboxylic acid metabolic process
cellular lipid metabolic process
oxoacid metabolic process
endoplasmic reticulum
organic acid metabolic process
lipid metabolic process
mitochondrion
ion transport
ATP binding
small molecule metabolic process
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)