HMGCS2 - 3-hydroxy-3-methylglutaryl-CoA synthase 2 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 3158

About HMGCS2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,747,996-119,768,932 (from NCBI)

This gene has 4 transcripts (splice variants), 127 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in liver (RPKM 471.6), colon (RPKM 127.8) and 5 other tissues.

Summary

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

HMGCS2 Products (2)

mRNA Protein Name
NM_001166107.1 NP_001159579.1 hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor
NM_005518.4 NP_005509.1 hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 1 precursor

HMGCS2 Protein Structure

HMG_CoA_synt_N

HMG_CoA_synt_N: Hydroxymethylglutaryl-coenzyme A synthase N terminal (50 - 223)

HMG_CoA_synt_C

HMG_CoA_synt_C: Hydroxymethylglutaryl-coenzyme A synthase C terminal (225 - 506)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 508 a.a.
Protein Preferred Names Protein Names

hydroxymethylglutaryl-CoA synthase, mitochondrial

  • 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

HMGCS2 抗体

製品番号 製品名 アプリケーション 反応性
HY-P80968 HMGCS2 Antibody (YA847) WB, IHC-P Human, Mouse, Rat

関連疾患

Diseases Alias
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency

  • 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency

  • HMGCS2D

  • Mitochondrial Hmg-Coa Synthase Deficiency

  • Hmgcs2 Deficiency

  • Hmg-Coa Synthase-2 Deficiency

  • Hmg-Coa Synthase Deficiency

  • Hmg-Coa Synthase 2 Deficiency

  • Hmgcs Deficiency

  • Mitochondrial 3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency

  • 3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency
Smith-Lemli-Opitz Syndrome

  • SLOS

  • Rsh Syndrome

  • 7-Dehydrocholesterol Reductase Deficiency

  • Slo Syndrome

  • Rutledge Lethal Multiple Congenital Anomaly Syndrome

  • Lethal Acrodysgenital Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

  • Smith-Opitz-Inborn Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

  • Smith Lemli Opitz Syndrome

  • Smith-Lemli-Opitz Syndrome, Type Ii
Alcoholic Ketoacidosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-148334 MS8815 Degrader 99.95% Unkown
HY-RS06242 HMGCS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18424 Hmgcs2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24905 Hmgcs2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Macaca mulatta HMGCS2 VGNC VGNC:73486
Rattus norvegicus HMGCS2 RGD RGD:2804
Mus musculus HMGCS2 MGD MGI:101939
Bos taurus HMGCS2 VGNC VGNC:29881
Felis catus HMGCS2 VGNC VGNC:67598
Canis familiaris HMGCS2 VGNC VGNC:41715
Others HMGCS2 NCBI