Description
| 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 |
