HMGCS1 Chromosome 5
3-hydroxy-3-methylglutaryl-CoA synthase 1
Upload your DNA to see your personal genotypes for variants in HMGCS1.
What This Gene Does
Enables protein homodimerization activity. Predicted to be involved in acetyl-CoA metabolic process and farnesyl diphosphate biosynthetic process, mevalonate pathway. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Rigid spine syndrome
CONGENITAL MYOPATHY 28 WITH RIGID SPINE
Key Variants
RS1255293139
Pathogenic
Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome
Health Risk
RS1753848501
Pathogenic
Rigid spine syndrome, Rigid spine syndrome
Health Risk
RS1754165557
Pathogenic
Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome
Health Risk
RS2478251946
Pathogenic
Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome
Health Risk
RS2478275416
Pathogenic
Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome
Health Risk
RS2478294429
Pathogenic
Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome
Health Risk
RS769894152
Pathogenic
Rigid spine syndrome, Rigid spine syndrome
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1255293139 | Health Risk | Pathogenic | Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome |
| RS1753848501 | Health Risk | Pathogenic | Rigid spine syndrome, Rigid spine syndrome |
| RS1754165557 | Health Risk | Pathogenic | Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome |
| RS2478251946 | Health Risk | Pathogenic | Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome |
| RS2478275416 | Health Risk | Pathogenic | Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome |
| RS2478294429 | Health Risk | Pathogenic | Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE, Rigid spine syndrome |
| RS769894152 | Health Risk | Pathogenic | Rigid spine syndrome, Rigid spine syndrome |