13q12 or CRYL1 copy number variation (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none NAD+Cibacron blue3-dehydro-L-gulonateMalonateCRYL1NADHL-gulonateName: 13q12 or CRYL1 copy number variationOrganism: Homo sapiens


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).

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Quality Tags

Image:Curated.pngApproved version
Image:Wplogo_31.pngCommunity: Rare Diseases

Ontology Terms

Bibliography

  1. 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

View all...
CompareRevisionActionTimeUserComment
134424
Approved
RARE
view23:16, 21 July 2024EweitzOntology Term : 'disease of mental health' added !
127147view13:49, 6 August 2023FehrhartOntology Term : 'chromosomal duplication syndrome' added !
127146view13:49, 6 August 2023FehrhartOntology Term : 'chromosomal deletion syndrome' added !
127145view13:49, 6 August 2023FehrhartOntology Term : 'PW:0000001' removed !
127144view13:49, 6 August 2023FehrhartOntology Term : 'disease pathway' added !
127143view13:49, 6 August 2023FehrhartOntology Term : 'Pathway Ontology' added !
127142view13:47, 6 August 2023FehrhartNew pathway

External references

DataNodes

View all...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
3-dehydro-L-gulonateMetabolite57655 (ChEBI)
CRYL1GeneProductENSG00000165475 (Ensembl)
Cibacron blueMetabolite172469 (PubChem-compound)
L-gulonateMetabolite13115 (ChEBI)
MalonateMetaboliteCHEBI:38083 (ChEBI)
NAD+MetaboliteCHEBI:15846 (ChEBI)
NADHMetaboliteCHEBI:16908 (ChEBI)

Annotated Interactions

Source  ↓Target  ↓Type  ↓Database reference  ↓Comment  ↓
L-gulonate3-dehydro-L-gulonatemim-conversion12889 (Rhea)
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