LMPD Database

LMP004199

UniProt Annotations

Entry Information
Gene Namesolute carrier family 27 (fatty acid transporter), member 4
Protein EntryS27A4_MOUSE
UniProt IDQ91VE0
SpeciesMouse
Comments
Comment typeDescription
DiseaseNote=Defects in Slc27a4 are the cause of wrinkle-free (wrfr) phenotype. It is a spontaneous, autosomal recessive mutation resulting in very tight, thick skin and is secondary characterized by severe breathing difficulties. Mice die shortly after birth. This phenotype is similar to human restrictive dermopathy, a very rare human genetic disorder. {ECO:0000269|PubMed:12697906}.
FunctionInvolved 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 (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones. {ECO:0000269|PubMed:10518211, ECO:0000269|PubMed:11404000, ECO:0000269|PubMed:12821645, ECO:0000269|PubMed:15653672, ECO:0000269|PubMed:15699031, ECO:0000269|PubMed:23407971}.
MiscellaneousDeletion of Slc27a4 results in embryonic lethality, which has been attributed to a requirement for fat absorption early in embryonic development across the visceral endoderm.
MiscellaneousSlc27a4 deficient mice display features of a neonatally lethal restrictive dermopathy. Their skin is characterized by hyperproliferative hyperkeratosis with a disturbed epidermal barrier, a flat dermal-epidermal junction, a reduced number of pilo-sebaceous structures, and a compact dermis. The rigid skin consistency results in an altered body shape with facial dysmorphia, generalized joint flexion contractures and impaired movement including suckling and breathing deficiencies. Lipid analysis demonstrates a disturbed fatty acid composition of epidermal ceramides, in particular a decrease in the C26:0 and C26:0-OH fatty acid substitutes.
Sequence CautionSequence=AAC40188.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAC40188.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
SimilarityBelongs to the ATP-dependent AMP-binding enzyme family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane.
Tissue SpecificityMost abundantly expressed in small intestine, brain, kidney, liver, skin and heart. In small intestine, expressed at high levels on the apical side of mature enterocytes. Highly expressed by the epithelial cells of the visceral endoderm and localized to the brush-border membrane of extraembryonic endodermal cells (at protein level). Expressed in the retinal pigment epithelium and in the retina (at protein level). Expressed in the retinal pigment epithelium and in the retina. {ECO:0000269|PubMed:10518211, ECO:0000269|PubMed:11404000, ECO:0000269|PubMed:14512415, ECO:0000269|PubMed:23407971, ECO:0000269|PubMed:9671728}.