SLCtables

SLC27A4

Protein name: FATP4 Aliases: ACSVL4 Substrates: LCFA, VLCFA Transport type: LCFA transport, VLCFA activation Tissue and cellular expression: small intestine, skin, placenta, brain, skeletal muscle, WAT, endothelial cells Subcellular expression: N/D Disease: restrictive dermopathy (OMIM #275210) Locus: 9q34.11 Sequence ID: NP_005085.2, NM_005094.3 Gene ID: 10999 Splice variants: unknown

S27A4_HUMAN (UniProt)

Gene names: SLC27A4, ACSVL4, FATP4
Protein names and data: S27A4_HUMAN, Full=Long-chain fatty acid transport protein 4;Short=FATP-4;Short=Fatty acid transport protein 4;EC=6.2.1.-, Full=Solute carrier family 27 member 4; Length: 643 a.a., Mass: 72064 Da,
fasta formatted sequence
Function: Involved 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 (By similarity)
Disease: (OMIM: 604194 608649) Defects in SLC27A4 are the cause of ichthyosis prematurity syndrome (IPS) [MIM:608649]. 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
Cellular location: Membrane; Multi-pass membrane protein (Probable)
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

Database cross-references

UniProt: Q6P1M0
NextBio: 41787
OMIM: 604194 608649
Ensembl: ENST00000300456
GeneCard: GC09P128340
PharmGenUCSF: SLC27A4
Guide to Pharmacology: SLC27A4 (1111)
SLC27 family of fatty acid transporters (1111)
HGNC: HGNC:10998

Genetic variants

See also Ensembl:ENST00000300456

92 - 92 A -> T (in IPS). VAR_063192
209 - 209 G -> S (correlates with lower body mass index, triglyceride concentrations, systolic blood pressure, insulin concentrations and homeostasis model assessment index; dbSNP:rs2240953). VAR_023783 2240953
247 - 247 S -> P (in IPS). VAR_063193
300 - 300 Q -> R (in IPS). VAR_063194
374 - 374 R -> C (in IPS). VAR_064500
583 - 583 R -> H (in IPS). VAR_063195