Aliases for SLC27A3 Gene
External Ids for SLC27A3 Gene
Previous GeneCards Identifiers for SLC27A3 Gene
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]
GeneCards Summary for SLC27A3 Gene
SLC27A3 (Solute Carrier Family 27 Member 3) is a Protein Coding gene. Diseases associated with SLC27A3 include Autosomal Dominant Non-Syndromic Intellectual Disability 18 and Rippling Muscle Disease 2. Among its related pathways are Insulin resistance and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleotide binding and long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A6.
UniProtKB/Swiss-Prot Summary for SLC27A3 Gene
Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (PubMed:23936004). Does not exhibit fatty acid transport activity (By similarity).