| Gene Symbol |
HMGCS2
|
| Entrez Gene |
3158
|
| Alt Symbol |
-
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
|
| Other Description |
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)|HMG-CoA synthase|hydroxymethylglutaryl-CoA synthase, mitochondrial
|
| Swissprots |
D3Y5K6 Q6IBF4 B7Z8R3 P54868 Q5SZU2
|
| Accessions |
AAB72036 EAW56709 EAW56710 P54868 AI215948 AK301594 BAH13520 AK302276 BAH13664 AK303777 BAH14049 AK313590 BC044217 AAH44217 BF964973 BP420631 BX104280 CR456850 CAG33131 GU433940 ADD21696 U12788 AAA92673 U12789 AAA92674 X83618 CAA58593 XM_011541313 XP_011539615 NM_001166107 NP_001159579 NM_005518 NP_005509
|
| Function |
This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.
|
| Subcellular Location |
Mitochondrion.
|
| Tissue Specificity |
Expression in liver is 200-fold higher than in any other tissue. Low expression in colon, kidney, testis, and pancreas. Very low expression in heart and skeletal muscle. Not detected in brain. The relative expression of isoform 3 (at mRNA level) is highest in heart (70%) and skeletal muscle (60%). {ECO:0000269|PubMed:16940161, ECO:0000269|PubMed:21952825, ECO:0000269|PubMed:7893153}.
|
| Top Pathways |
Terpenoid backbone biosynthesis, PPAR signaling pathway, Synthesis and degradation of ketone bodies, Valine, leucine and isoleucine degradation, Butanoate metabolism
|