SLC27A4: 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. Defects in SLC27A4 are the cause of ichthyosis prematurity syndrome (IPS). A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations. Belongs to the ATP-dependent AMP-binding enzyme family.
Protein type: Transporter; Membrane protein, multi-pass; EC 6.2.1.-; Ligase; Membrane protein, integral; Transporter, SLC family
Cellular Component: brush border membrane; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; membrane; microvillus; plasma membrane
Molecular Function: 2,4-dichlorobenzoate-CoA ligase activity; 2-oxo-delta3-4,5,5-trimethylcyclopentenylacetyl-CoA synthetase activity; 3-isopropenyl-6-oxoheptanoyl-CoA synthetase activity; 3-oxo-2-(2'-pentenyl)cyclopentane-1-octanoic acid (OPC-8:0) CoA ligase activity; acyl-CoA ligase activity; aryl-CoA synthetase (ADP-forming) activity; benzoyl acetate-CoA ligase activity; branched-chain acyl-CoA synthetase (ADP-forming) activity; catalytic activity; fatty-acid ligase activity; ligase activity; long-chain-fatty-acid-CoA ligase activity; nucleotide binding; succinate-CoA ligase activity; very-long-chain-fatty-acid-CoA ligase activity
Biological Process: fatty acid metabolic process; fatty acid transport; lipid metabolic process; lipid transport; long-chain fatty acid metabolic process; long-chain fatty acid transport; medium-chain fatty acid transport; metabolic process; skin development; transport; very-long-chain fatty acid catabolic process; very-long-chain fatty acid metabolic process
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