HMGCS1
Description
The HMGCS1 (3-hydroxy-3-methylglutaryl-CoA synthase 1) is a protein-coding gene located on chromosome 5.
HMGCS1 catalyzes the formation of HMG-CoA by combining acetyl-CoA and acetoacetyl-CoA. This HMG-CoA is then converted by HMG-CoA reductase (HMGCR) into mevalonate, which is a crucial precursor for cholesterol synthesis.
HMGCS1 is also known as HMGCS.
Associated Diseases
- rigid spine syndrome
- Alzheimer disease
- lysosomal storage disease
- multiple sclerosis
- Parkinson disease
- pachyonychia congenita
- cancer
- isolated asymptomatic elevation of creatine phosphokinase
- synovial bursa disorder
- synovium disorder
- pentosuria
