Property Summary

NCBI Gene PubMed Count 18
Grant Count 6
R01 Count 4
Funding $227,134.54
PubMed Score 36.69
PubTator Score 25.68

Knowledge Summary

Patent

No data available

Expression

Gene RIF (6)

PMID Text
25231368 Data indicate no mutation was found in glycine cleavage system protein-H (GCSH) and suggest that mutations in both glycine decarboxylase (GLDC) and aminomethyltransferase (AMT) are the main cause of glycine encephalopathy in Malaysian population.
21539457 There is no detectable glycine cleavage enzyme activity in human skin fibroblasts.
19844255 Observational study of gene-disease association. (HuGE Navigator)
19299230 Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system.
16450403 Observational study of genotype prevalence. (HuGE Navigator)
12402263 Heterozygous GCSH gene mutation in transient neonatal hyperglycinemia.

AA Sequence

MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTLRTGPALLSVRKFTEKHEWVTTENGIGTVG      1 - 70
ISNFAQEALGDVVYCSLPEVGTKLNKQDEFGALESVKAASELYSPLSGEVTEINEALAENPGLVNKSCYE     71 - 140
DGWLIKMTLSNPSELDELMSEEAYEKYIKSIEE                                         141 - 173
//

Text Mined References (21)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25231368 2014 Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
21539457 2011 Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.
21269460 2011 Initial characterization of the human central proteome.
19844255 2010 Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
19299230 2009 Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.
16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
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