GCSH

From Wikipedia, the free encyclopedia

Glycine cleavage system protein H (aminomethyl carrier)

Identifiers

GCSH; GCE; NKH

External IDs

Gene ontology
Molecular Function:	• aminomethyltransferase activity • lipoic acid binding
Cellular Component:	• mitochondrion • glycine cleavage complex
Biological Process:	• glycine catabolic process

Orthologs

Human

Mouse

Entrez

2653

n/a

Refseq

NM_004483 (mRNA)
NP_004474 (protein)

n/a (mRNA)
n/a (protein)

Pubmed search

[1]

n/a

Glycine cleavage system protein H (aminomethyl carrier), also known as GCSH, is a human gene.^[1]

The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase; MIM 238300), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme; MIM 238310), and L protein (a lipoamide dehydrogenase; MIM 238331). Glycine encephalopathy (GCE; MIM 605899), also called nonketotic hyperglycinemia (NKH), may be due to a defect in any one of these enzymes.[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: GCSH glycine cleavage system protein H (aminomethyl carrier).

[edit] Further reading

Koyata H, Hiraga K (1991). "The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.". Am. J. Hum. Genet. 48 (2): 351–61. PMID 1671321.
Fujiwara K, Okamura-Ikeda K, Hayasaka K, Motokawa Y (1991). "The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning.". Biochem. Biophys. Res. Commun. 176 (2): 711–6. PMID 2025283.
Hiraga K, Kure S, Yamamoto M, et al. (1988). "Cloning of cDNA encoding human H-protein, a constituent of the glycine cleavage system.". Biochem. Biophys. Res. Commun. 151 (2): 758–62. PMID 3348809.
Gründig E, Birnbaumer E, Hawrylewicz A (1981). "Influence of phenothiazines or reserpine on the formation of 14C-glycine from U-14C-serine.". Enzyme 26 (1): 43–8. PMID 6111451.
Hiraga K, Kochi H, Hayasaka K, et al. (1981). "Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.". J. Clin. Invest. 68 (2): 525–34. PMID 6790577.
Kure S, Kojima K, Kudo T, et al. (2001). "Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.". J. Hum. Genet. 46 (7): 378–84. PMID 11450847.
Kure S, Kojima K, Ichinohe A, et al. (2002). "Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.". Ann. Neurol. 52 (5): 643–6. doi:10.1002/ana.10367. PMID 12402263.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.