13q12 or CRYL1 copy number variation (Homo sapiens)
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Description
Deletion or duplication of the CRYL1 gene located at chromosome 13q12 (chr13:20977806-21100012 (GRCh37)) is a risk factor for psychiatric disorders (Kirov et al. 2014).
Quality Tags
Ontology Terms
Bibliography
- Ishikura S, Usami N, Araki M, Hara A; ''Structural and functional characterization of rabbit and human L-gulonate 3-dehydrogenase.''; J Biochem, 2005 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
3-dehydro-L-gulonate | Metabolite | 57655 (ChEBI) | |
CRYL1 | GeneProduct | ENSG00000165475 (Ensembl) | |
Cibacron blue | Metabolite | 172469 (PubChem-compound) | |
L-gulonate | Metabolite | 13115 (ChEBI) | |
Malonate | Metabolite | CHEBI:38083 (ChEBI) | |
NAD+ | Metabolite | CHEBI:15846 (ChEBI) | |
NADH | Metabolite | CHEBI:16908 (ChEBI) |
Annotated Interactions
Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
L-gulonate | 3-dehydro-L-gulonate | mim-conversion | 12889 (Rhea) |