Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
HMGCS1 3-hydroxy-3-methylglutaryl-coa synthase 1       | 5p12 | * Rigid spince syndrome related to HMGCS1 - (2.18) |
This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2025 (updated 12/03/2025)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
HMGCS1 3-hydroxy-3-methylglutaryl-coa synthase 1 | 5p12 | * Rigid spince syndrome related to HMGCS1 - (2.18) |