SLC27A5
Description
The SLC27A5 (solute carrier family 27 member 5) is a protein-coding gene located on chromosome 19.
SLC27A5, the human gene encoding Bile acyl-CoA synthetase, is an isozyme of very long-chain acyl-CoA synthetase (VLCS). This enzyme activates very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in the liver and associated with the endoplasmic reticulum, but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog.
SLC27A5 may facilitate the transport of long-chain fatty acids (LCFA) across cell membranes. It catalyzes the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates. SLC27A5 primarily functions as a bile acyl-CoA synthetase, activating bile acids through ATP-dependent formation of bile acid CoA thioesters, essential for their subsequent conjugation with glycine or taurine. Both primary bile acids (cholic acid and chenodeoxycholic acid) and secondary bile acids (deoxycholic acid and lithocholic acid) serve as substrates. In vitro, SLC27A5 activates 3-alpha,7-alpha,12-alpha- trihydroxy-5-beta-cholestanate ((25R)-3alpha,7alpha,12alpha-trihydroxy- 5beta-cholestan-26-oate or THCA), the C27 precursor of cholic acid derived from de novo synthesis from cholesterol. SLC27A5 plays a significant role in hepatic fatty acid uptake and bile acid reconjugation and recycling but is not involved in the de novo synthesis of bile acids.
SLC27A5 is also known as ACSB, ACSVL6, BACS, BAL, FACVL3, FATP-5, FATP5, VLACSR, VLCS-H2, VLCSH2.
Associated Diseases
- colorectal cancer
- myoepithelial tumor
- glycogen storage disease VI
- obesity due to melanocortin 4 receptor deficiency
- neonatal intrahepatic cholestasis due to citrin deficiency
- glycogen storage disease III
