SLC27A4

Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes (PubMed:10518211, PubMed:12556534, PubMed:20448275, PubMed:21395585, PubMed:22022213). Appears to be the principal fatty acid transporter in small intestinal enterocytes (PubMed:20448275). Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates, which prevents fatty acid efflux from cells and might drive more fatty acid uptake (PubMed:22022213, PubMed:24269233). Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis (By similarity). Probably involved in fatty acid transport across the blood barrier (PubMed:21395585). 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).

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the ATP-dependent AMP-binding enzyme family.

Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tissue (PubMed:24269233, PubMed:9878842). Expressed in brain gray matter (PubMed:21395585).

• Endoplasmic reticulum membrane
• Multi-pass membrane protein

ACSVL4, FATP4, SLC27A4, Long-chain fatty acid transport protein 4, FATP-4, Fatty acid transport protein 4, Arachidonate--CoA ligase, Long-chain-fatty-acid--CoA ligase, Solute carrier family 27 member 4, Very long-chain acyl-CoA synthetase 4

• entrezGene:10999
• omim:604194
• swissprot:Q6P1M0

Proteins

Immunology & Infectious Disease

72064Da