GCSH - glycine cleavage system protein H Gene

Homo sapiens

Also known as GCE; NKH

Gene ID: 2653 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

GCSH Protein Structure

GCV_H

0
100
173 a.a.

Protein Preferred Names

Protein Names

glycine cleavage system H protein, mitochondrial

glycine cleavage system protein H (aminomethyl carrier)

Recombinant GCSH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76358	GCSH Protein, Human (His)	P23434 (S49-E173)	≥95%

Related Diseases

Diseases

Alias

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05344	GCSH Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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