RBCC Red Blood Cell Collection

S27A4_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: SLC27A4 , ACSVL4, FATP4
Protein names and data: S27A4_HUMAN , Long-chain fatty acid transport protein 4; FATP-4; Fatty acid transport protein 4; 6.2.1.- , Solute carrier family 27 member 4 Lenght: 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 (VLCFAs). 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).
Disease: ( OMIM: 604194 608649 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Multi-pass membrane protein (Probable). Endoplasmic reticulum membrane (By similarity).
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.

Genetic variants

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

Database cross-references

UniProt: Q6P1M0
Ensembl: ENST00000300456
MIM: 604194
MIM: 608649
neXtProt: NX_Q6P1M0
Antibodypedia: Q6P1M0 (may not find the protein thus also not any antibody)
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