2. Gene
  3. GSS - glutathione synthetase Gene

GSS - glutathione synthetase Gene

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

中文名称：谷胱甘肽合成酶

种属: Homo sapiens

同用名: GSHS; HEL-S-64p; HEL-S-88n

基因 ID: 2937 | 基因类型: protein coding

关于 GSS

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,928,432-34,956,027 (from NCBI)

This gene has 28 transcripts (splice variants), 245 orthologues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 14.9), colon (RPKM 13.6) and 25 other tissues.

功能概要

谷胱甘肽对多种生物学功能都很重要，包括保护细胞免受自由基的氧化损伤、异生素的解毒和膜转运。由该基因编码的蛋白质作为同源二聚体催化谷胱甘肽生物合成的第二步，即依赖 ATP 的 γ-L-谷氨酰-L-半胱氨酸转化为谷胱甘肽。该基因的缺陷是谷胱甘肽合成酶缺乏症的原因。[RefSeq 提供，2008 年 7 月]

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

GSS 基因产物(3)

mRNA Protein Name
NM_000178.4 NP_000169.1 glutathione synthetase
NM_001322494.1 NP_001309423.1 glutathione synthetase
NM_001322495.1 NP_001309424.1 glutathione synthetase

GSS 蛋白结构

GSH_synth_ATP

GSH_synth_ATP: Eukaryotic glutathione synthase, ATP binding domain (8 - 472)

GSH_synthase

GSH_synthase: Eukaryotic glutathione synthase (203 - 302)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 474 a.a.
蛋白主名 其他名称

glutathione synthetase

GSH synthetase

重组 GSS 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70360 Glutathione synthetase/GSS Protein, Human (His) P48637 (A2-V474) ≥95%

关联疾病

疾病名称 别名
Glutathione Synthetase Deficiency

5-Oxoprolinuria

Pyroglutamic Aciduria

Pyroglutamicaciduria

Glutathione Synthetase Deficiency With 5-Oxoprolinuria

GSSD

Oxoprolinase Deficiency

5-Oxoprolinemia

Deficiency Of Glutathione Synthase

Deficiency Of Glutathione Synthetase

Pyroglutamic Acidemia

GSS DEFICIENCY

Gluthathione Synthetase Deficiency

5-Oxoprolinase Deficiency
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To

Hemolytic Anemia Due To Glutathione Synthetase Deficiency

GSSDE

Glutathione Synthetase Deficiency Of Erythrocytes

GLUSYNDE
Glutathione Synthetase Deficiency Of Erythrocytes

Glutathione Synthetase Deficiency Without 5-Oxoprolinuria
Metabolic Acidosis
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect
Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria

D2L2AD

Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

D,L-2-Hga

D,L-2-Hydroxyglutaric Acidemia

Combined D,L-2-Hydroxyglutaric Aciduria
2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Cystinosis

Cystine Storage Disease

Cystine Diathesis

Cystine Disease

Cystinoses

Protein Defect Of Cystin Transport

Cystin Transport, Protein Defect Of

Nephropathic Cystinosis

Protein Defect Of Cystine Transport
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05871 GSS Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GSS MGD MGI:95852
Bos taurus GSS VGNC VGNC:29683
Macaca mulatta GSS VGNC VGNC:73301
Canis familiaris GSS VGNC VGNC:41534
Rattus norvegicus GSS RGD RGD:2752
Felis catus GSS VGNC VGNC:67489
Others GSS NCBI
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