SLC27A4

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.

solute carrier family 27 (fatty acid transporter), member 4

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).

Biological Process activation of GTPase activityManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process establishment of localization in cellIEA:Ensembl
Biological Process fatty acid metabolic processManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process fatty acid transportManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process glucose import in response to insulin stimulusISS:ARUK-UCL
Biological Process lipid transport across blood-brain barrierManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process long-chain fatty acid import into cellManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process long-chain fatty acid metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process long-chain fatty acid transportManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process medium-chain fatty acid transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of all-trans-retinyl-ester hydrolase, 11-cis retinol forming activityIEA:Ensembl
Biological Process negative regulation of insulin receptor signaling pathwayManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process positive regulation of apoptotic processManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process response to nutrientManual Assertion Based On ExperimentIBA:GO_Central
Biological Process skin developmentIEA:Ensembl
Biological Process transport across blood-brain barrier2 PublicationsNAS:ARUK-UCL
Biological Process very long-chain fatty acid catabolic processManual Assertion Based On ExperimentIBA:GO_Central

Endoplasmic reticulum membrane

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.