GLDC Chromosome 9
Glycine decarboxylase
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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 P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
Associated Conditions (18)
Glycine encephalopathy
GLDC-related disorder
Glycine encephalopathy 1
Inborn genetic diseases
Malignant tumor of esophagus
Cervical cancer
Ovarian cancer
Sarcoma
Intellectual disability
Hepatocellular carcinoma
Familial pancreatic carcinoma
Smith-Magenis Syndrome-like
Ovarian serous cystadenocarcinoma
Abnormal brain morphology
Global developmental delay
Obesity
Generalized epilepsy
Retinitis pigmentosa
Key Variants
RS1052505781
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS113736090
Conflicting classifications of pathogenicity
Glycine encephalopathy, GLDC-related disorder, Glycine encephalopathy
Health Risk
RS1164241828
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
Health Risk
RS117460214
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS1267445922
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS1296797567
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS1326427792
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS1356375715
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS138454333
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS138640017
Conflicting classifications of pathogenicity
Glycine encephalopathy, Inborn genetic diseases, GLDC-related disorder
Health Risk
RS139300551
Conflicting classifications of pathogenicity
Inborn genetic diseases, Glycine encephalopathy, Inborn genetic diseases
Health Risk
RS139931025
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
All Variants (470)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS386833536 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS386833542 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy, Glycine encephalopathy 1 |
| RS386833555 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS386833559 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy, Glycine encephalopathy 1 |
| RS386833560 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS386833572 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS386833580 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, GLDC-related disorder, Glycine encephalopathy |
| RS386833586 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS747853668 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS749512886 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS749981093 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS753759723 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS755313904 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS761957837 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS763517274 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS765893483 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS766762760 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS768091555 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |
| RS772871471 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy |
| RS779434645 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy |