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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：3-羟基-3-甲基戊二酰辅酶 A 合酶 2

种属: Homo sapiens

基因 ID: 3158 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于 HMG-CoA 合酶家族。它是一种线粒体酶，可催化生酮反应的第一反应，生酮反应是一种代谢途径，可在碳水化合物剥夺期间 (例如禁食) 为各种器官提供脂质衍生能量。该基因的突变与 HMG-CoA 合酶缺陷有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2009 年 10 月]

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 基因产物(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 蛋白结构

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
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  • 508 a.a.
蛋白主名 其他名称

hydroxymethylglutaryl-CoA synthase, mitochondrial

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

HMGCS2 抗体

目录号 产品名 应用 反应物种
HY-P80968 HMGCS2 Antibody (YA847) WB, IHC-P Human, Mouse, Rat

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06242 HMGCS2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18424 Hmgcs2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24905 Hmgcs2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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