This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]
Function:
Microsomal long and very long chain fatty acid elongation uses malonyl CoA as the 2 carbon donor and consists of 4 sequential reactions. GPSN2 catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. (Moon and Horton, 2003 [PubMed 12482854]).
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue Specificity:
Expressed in most tissues tested. Highly expressed in skeletal muscle.
DISEASE:
Mental retardation, autosomal recessive 14 (MRT14) [MIM:614020]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the steroid 5-alpha reductase family.
SWISS:
Q9NZ01
Gene ID:
9524
Database links:
Entrez Gene: 9524 Human
Entrez Gene: 106529 Mouse
Entrez Gene: 191576 Rat
Omim: 610057 Human
SwissProt: Q9NZ01 Human
SwissProt: Q9CY27 Mouse
SwissProt: Q64232 Rat
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