Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person adenine phosphoribosyltransferase deficiency

Class:IdDisease:9734160
_displayNameadenine phosphoribosyltransferase deficiency
_timestamp2021-06-15 14:51:13
created[InstanceEdit:9734161] D'Eustachio, Peter, 2021-06-15
definitionA purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
identifier0060350
nameadenine phosphoribosyltransferase deficiency
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymAPRT deficiency
2,8-dihydroxyadenine urolithiasis
(disease)[Complex:9734179] APRT L110P dimer [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734183] APRT D65V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734184] APRT M136T [cytosol] [Homo sapiens]
[DefinedSet:9734185] APRT dimer mutants [cytosol] [Homo sapiens]
[Complex:9734186] APRT D65V dimer [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734191] APRT L110P [cytosol] [Homo sapiens]
[Complex:9734196] APRT M136T dimer [cytosol] [Homo sapiens]
[FailedReaction:9734193] Defective APRT does not convert adenine to AMP [Homo sapiens]
[Pathway:9734195] Defective APRT disrupts adenine salvage [Homo sapiens]
[Change default viewing format]
No pathways have been reviewed or authored by adenine phosphoribosyltransferase deficiency (9734160)
Follow Reactome