DISEASES

Disease-gene associations mined from literature

Literature associating SLC27A4 and autosomal recessive congenital ichthyosis

SLC27A4 [ENSP00000300456]

Solute carrier family 27 (fatty acid transporter), member 4; 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); Belongs to the ATP-dependent AMP-binding enzyme family.

Synonyms:  SLC27A4,  SLC27A4p,  hSLC27A4,  A0A024R8D2,  Q6P1M0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM