synthase 2 (mitochondrial) is an enzyme in humans that is encoded by the HMGCS2 gene. The protein encoded by this gene belongs to the HMG-CoA synthase family...
5 KB (588 words) - 03:33, 29 November 2023
ketogenesis (HMGCS2 and HMGCL), for ketolysis (OXCT1, ACAT1). Defects in this pathway can cause varying degrees of inability to cope with fasting. HMGCS2 deficiency...
19 KB (2,337 words) - 16:33, 17 August 2024
evolution and viability of bigger brains in general. However, the loss of HMGCS2 (and consequently this ability) in three large-brained mammalian lineages...
21 KB (2,479 words) - 06:16, 27 September 2024
HGNC:21359 Q8TB92 7126 HMGCR HGNC:5006 P04035 7127 HMGCS1 HGNC:5007 Q01581 7128 HMGCS2 HGNC:5008 P54868 7129 HMGN1 HGNC:4984 P05114 7130 HMGN2 HGNC:4986 P05204...
277 KB (17 words) - 18:41, 6 October 2024
specifically induced by mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) activity. The oxidized form of ketone bodies (acetoacetate) in a cultured...
24 KB (3,038 words) - 18:36, 14 July 2024
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial) Identifiers Symbol HMGCS2 NCBI gene 3158 HGNC 5008 OMIM 600234 RefSeq NM_005518 UniProt P54868 Other...
9 KB (877 words) - 20:48, 6 June 2024
(hydroxymethylglutaricaciduria) HAO2 encoding protein Hydroxyacid oxidase 2 HMGCS2: 3-hydroxy-3-methylglutaryl-CoA synthase 2 HP1BP3: Heterochromatin protein...
46 KB (3,290 words) - 20:16, 17 August 2024
deficiency causes hypoketotic hypoglycemia similar to that is caused by HMGCS2 mutations but also leads to organic acid accumulation and metabolic acidosis...
7 KB (812 words) - 15:51, 12 February 2024
fibrous, somatic; 612160; CREB1 HMG-CoA synthase-2 deficiency; 605911; HMGCS2 Hodgkin's lymphoma; 236000; KLHDC8B Holocarboxylase synthetase deficiency;...
234 KB (18,877 words) - 15:43, 9 May 2024