Aliases for SLC27A4 Gene
External Ids for SLC27A4 Gene
Previous GeneCards Identifiers for SLC27A4 Gene
This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]
GeneCards Summary for SLC27A4 Gene
SLC27A4 (Solute Carrier Family 27 Member 4) is a Protein Coding gene. Diseases associated with SLC27A4 include Ichthyosis Prematurity Syndrome and Diffuse Cutaneous Mastocytosis. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Translation Insulin regulation of translation. GO annotations related to this gene include nucleotide binding and very long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A1.
UniProtKB/Swiss-Prot for SLC27A4 Gene
Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity).