GCSH Chromosome 16
Glycine cleavage system protein H
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What This Gene Does
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]
Associated Conditions (3)
Glycine encephalopathy
GCSH-related disorder
Multiple mitochondrial dysfunctions syndrome 7
Key Variants
RS540997326
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS779613867
Conflicting classifications of pathogenicity
GCSH-related disorder, GCSH-related disorder
Health Risk
RS386833859
Likely pathogenic
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS1972233022
Pathogenic
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS2507661713
Pathogenic
Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7
Health Risk
RS2507679454
Pathogenic
Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7
Health Risk
RS1165763082
Pathogenic/Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7
Health Risk
RS769222264
Pathogenic/Likely pathogenic
Glycine encephalopathy, Multiple mitochondrial dysfunctions syndrome 7, GCSH-related disorder
Health Risk
RS886039730
Pathogenic/Likely pathogenic
Glycine encephalopathy, Multiple mitochondrial dysfunctions syndrome 7, GCSH-related disorder
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS540997326 | Health Risk | Conflicting classifications of pathogenicity | Glycine encephalopathy, Glycine encephalopathy |
| RS779613867 | Health Risk | Conflicting classifications of pathogenicity | GCSH-related disorder, GCSH-related disorder |
| RS386833859 | Health Risk | Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS1972233022 | Health Risk | Pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS2507661713 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7 |
| RS2507679454 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7 |
| RS1165763082 | Health Risk | Pathogenic/Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7 |
| RS769222264 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Multiple mitochondrial dysfunctions syndrome 7, GCSH-related disorder |
| RS886039730 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Multiple mitochondrial dysfunctions syndrome 7, GCSH-related disorder |