2. Gene
  3. GCSH - glycine cleavage system protein H Gene

GCSH - glycine cleavage system protein H Gene

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

中文名称：甘氨酸裂解系统蛋白 H

种属: Homo sapiens

同用名: GCE; NKH

基因 ID: 2653 | 基因类型: protein coding

关于 GCSH

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,081,945-81,096,395 (from NCBI)

This gene has 10 transcripts (splice variants), 227 orthologues and is associated with 5 phenotypes. Broad expression in thyroid (RPKM 44.9), kidney (RPKM 31.4) and 23 other tissues.

功能概要

甘氨酸的降解是由甘氨酸裂解系统引起的，该系统由四种线粒体蛋白质成分组成：P 蛋白 (一种磷酸吡哆醛依赖性甘氨酸脱羧酶) 、H 蛋白 (一种含硫辛酸的蛋白) 、T 蛋白 (一种四氢叶酸-需要酶) 和 L 蛋白 (硫辛酰胺脱氢酶) 。该基因编码的蛋白质是 H 蛋白，它将甘氨酸的甲胺基团从 P 蛋白转移到 T 蛋白。该基因的缺陷是非酮症高甘氨酸血症 (NKH) 的一个原因。已发现该基因的两种转录变体，一种编码蛋白质，另一种可能不编码蛋白质。此外，该基因的几个转录和非转录假基因存在于整个基因组中。[RefSeq 提供，2010 年 1 月]

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring Enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]

GCSH 基因产物(1)

mRNA Protein Name
NM_004483.5 NP_004474.2 glycine cleavage system H protein, mitochondrial precursor

GCSH 蛋白结构

GCV_H

GCV_H: Glycine cleavage H-protein (51 - 170)

  • 0
  • 100
  • 173 a.a.
蛋白主名 其他名称

glycine cleavage system H protein, mitochondrial

glycine cleavage system protein H (aminomethyl carrier)

重组 GCSH 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76358 GCSH Protein, Human (His) P23434 (S49-E173) ≥95%

关联疾病

疾病名称 别名
Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia
Atypical Glycine Encephalopathy

Atypical Nka

Atypical Non-Ketotic Hyperglycinemia
Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1
Combined Oxidative Phosphorylation Deficiency 23

COXPD23

Combined Oxidative Phosphorylation Defect Type 23

Oxidative Phosphorylation Deficiency, Combined, Type 23
Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency

Mocod

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase

Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency

Deficiency Of Molybdenum Cofactor

Deficiency, Molybdenum Cofactor
Propionic Acidemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria
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-RS05344 GCSH Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GCSH VGNC VGNC:53389
Mus musculus GCSH MGD MGI:1915383
Rattus norvegicus GCSH RGD RGD:619946
Macaca mulatta GCSH VGNC VGNC:104728
Others GCSH NCBI
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