Recombinant Human Long-chain fatty acid transport protein 4 (SLC27A4) Protein

Function

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)

Subcellular Location

Endoplasmic reticulum membrane (Multi-pass membrane protein)

Disease Association

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

Tissue Specificity

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)

• Fitscher B.A. et al. Tissue distribution and cDNA cloning of a human fatty acid transport protein (hsFATP4). — Biochim. Biophys. Acta (1998)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Humphray S.J. et al. DNA sequence and analysis of human chromosome 9. — Nature (2004)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Stahl A. et al. Identification of the major intestinal fatty acid transport protein. — Mol. Cell (1999)
• Gimeno R.E. et al. Characterization of a heart-specific fatty acid transport protein. — J. Biol. Chem. (2003)
• Zhou W. et al. Development and validation of a high-throughput screening assay for human long-chain fatty acid transport proteins 4 and 5. — J. Biomol. Screen. (2010)