Reference for HMGCS2. Search for HMGCS2

AI searches containing HMGCS2

HMGCS2

HMGCS2

Protein-coding gene in the species Homo sapiens

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

HMGCS2

Ketone bodies

Chemicals produced during fat metabolism

evolution and viability of bigger brains in general. However, the loss of HMGCS2 (and consequently this ability) in three large-brained mammalian lineages

Ketone bodies

Ketone_bodies

Ketogenesis

Chemical synthesis of ketone bodies

(HMGCS2 and HMGCL), or for ketolysis (OXCT1 and ACAT1). Defects in this pathway can cause varying degrees of inability to cope with fasting. HMGCS2 deficiency

Ketogenesis

Chromosome 1

Human chromosome

(hydroxymethylglutaricaciduria) HAO2 encoding protein Hydroxyacid oxidase 2 HMGCS2: 3-hydroxy-3-methylglutaryl-CoA synthase 2 HP1BP3: Heterochromatin protein

Chromosome 1

Chromosome_1

List of human protein-coding genes 4

Q8TB92 7132 HMGCR HGNC:5006; P04035 7133 HMGCS1 HGNC:5007; Q01581 7134 HMGCS2 HGNC:5008; P54868 7135 HMGN1 HGNC:4984; P05114 7136 HMGN2 HGNC:4986; P05204

List of human protein-coding genes 4

List_of_human_protein-coding_genes_4

Hydroxymethylglutaryl-CoA synthase

Class of enzymes

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

Hydroxymethylglutaryl-CoA synthase

Hydroxymethylglutaryl-CoA_synthase

3-Hydroxy-3-methylglutaryl-CoA lyase

Class of enzymes

deficiency causes hypoketotic hypoglycemia similar to that is caused by HMGCS2 mutations but also leads to organic acid accumulation and metabolic acidosis

3-Hydroxy-3-methylglutaryl-CoA lyase

3-Hydroxy-3-methylglutaryl-CoA_lyase

List of OMIM disorder codes

fibrous, somatic; 612160; CREB1 HMG-CoA synthase-2 deficiency; 605911; HMGCS2 Hodgkin's lymphoma; 236000; KLHDC8B Holocarboxylase synthetase deficiency;

List of OMIM disorder codes

List_of_OMIM_disorder_codes