solute carrier family 27 member 4
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Diagnostic Grade (Green)
Autosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIchthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomalichthyosis prematurity syndrome
neurodegenerative disease
hereditary disease
lamellar ichthyosis
autosomal recessive disease
obesity disorder
hypertensive disorder
response to xenobiotic stimulus
erythrokeratodermia variabilis
disseminated superficial actinic porokeratosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Long-chain fatty acid transport protein 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)
SLC27A4 · Q6P1M0
Mean pLDDT
90.6/ 100
Very high
643 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
