Gene Symbol |
HSD17B12
|
Entrez Gene |
51144
|
Alt Symbol |
KAR, SDR12C1
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
hydroxysteroid (17-beta) dehydrogenase 12
|
Other Description |
17-beta-HSD 12|17-beta-hydroxysteroid dehydrogenase 12|17beta-HSD type 12|3-ketoacyl-CoA reductase|estradiol 17-beta-dehydrogenase 12|short chain dehydrogenase/reductase family 12C member 1|short chain dehydrogenase/reductase family 12C, member 1|steroid dehydrogenase homolog|very-long-chain 3-oxoacyl-CoA reductase
|
Swissprots |
Q96EA9 A8K9B0 D3DR23 Q9Y6G8 Q96JU2 Q53GQ0
|
Accessions |
CAF86901 CAF86962 EAW68080 EAW68081 EAW68082 EAW68083 EAW68084 EAW68085 EAW68086 EAW68087 EAW68088 EAW68089 Q53GQ0 AF078850 AAD44482 AK027882 AK074952 BAG52039 AK075011 BAG52052 AK075216 BAG52086 AK092938 AK222881 BAD96601 AK292625 BAF85314 AK301663 BAG63138 BC012043 AAH12043 BC012536 AAH12536 BP359822 BX537496 EU176708 ABW03509 XM_011520156 XP_011518458 NM_016142 NP_057226
|
Function |
Catalyzes the second of the four reactions of the long- chain fatty acids elongation cycle. This endoplasmic reticulum- bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3- ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation. {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:16166196}.
|
Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:12482854}; Multi-pass membrane protein {ECO:0000269|PubMed:12482854}.
|
Tissue Specificity |
Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets. {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:16113833, ECO:0000269|PubMed:16166196}.
|
Top Pathways |
Steroid hormone biosynthesis, Fatty acid elongation, Biosynthesis of unsaturated fatty acids, Fatty acid metabolism
|