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Human GCSH Recombinant Protein (RPPB3584)

SKU:
RPPB3584
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
P23434
€469

Description

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Product Name:Human GCSH Recombinant Protein
Product Code:RPPB3584
Size:20µg
Species:Human
Target:GCSH
Synonyms:Glycine cleavage system protein H (aminomethyl carrier), NKH, GCE, Lipoic acid-containing protein, Mitochondrial glycine cleavage system H-protein.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:The GCSH solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 1mM DTT, 0.15M NaCl and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 95% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSMSVRKFT EKHEWVTTEN GIGTVGISNF AQEALGDVVY CSLPEVGTKL NKQDEFGALE SVKAASELYS PLSGEVTEIN EALAENPGLV NKSCYEDGWL IKMTLSNPSE LDELMSEEAY EKYIKSIEE

There are four mitochondrial proteins composing the enzyme system for cleavage of glycine (glycine cleavage system): P protein, H protein, T protein, and L protein. GCSH is the H protein. GCSH transfers the methylamine group of glycine from the P protein to the T protein. Mutations in this gene results in nonketotic hyperglycinemia (NKH).

GCSH Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 149 amino acids (48-173) and having a molecular mass of 16.4 kDa.GCSH is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:GCSH: The glycine cleavage system catalyzes the degradation of glycine. The H protein shuttles the methylamine group of glycine from the P protein to the T protein. Defects in GCSH are a cause of non-ketotic hyperglycinemia (NKH); also known as glycine encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. Belongs to the GcvH family.
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 16q23.2

Cellular Component: mitochondrion; glycine cleavage complex

Molecular Function:enzyme binding; aminomethyltransferase activity

Biological Process: methylation; glycine decarboxylation via glycine cleavage system; glycine catabolic process

Disease: Glycine Encephalopathy

NCBI 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]
UniProt Code:P23434
NCBI GenInfo Identifier:311033385
NCBI Gene ID:2653
NCBI Accession:P23434.2
UniProt Related Accession:P23434
Molecular Weight:
NCBI Full Name:Glycine cleavage system H protein, mitochondrial
NCBI Synonym Full Names:glycine cleavage system protein H
NCBI Official Symbol:GCSH��
NCBI Official Synonym Symbols:GCE; NKH��
NCBI Protein Information:glycine cleavage system H protein, mitochondrial
UniProt Protein Name:Glycine cleavage system H protein, mitochondrial
UniProt Synonym Protein Names:Lipoic acid-containing protein
Protein Family:Glycine cleavage system H-like protein
UniProt Gene Name:GCSH��
UniProt Entry Name:GCSH_HUMAN

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