Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

RDH12 Y226C [photoreceptor inner segment membrane] Show undefined attributes

compartment

[Compartment:2473609] photoreceptor inner segment membrane

created [InstanceEdit:2471674] Jassal, Bijay, 2012年09月21日

crossReference

[DatabaseIdentifier:11945093] Mondo:0018998

dbId 2471697

disease

[Disease:2471664] Leber congenital amaurosis

displayName RDH12 Y226C [photoreceptor inner segment membrane]

endCoordinate 316

hasModifiedResidue

[ReplacedResidue:2471738] L-tyrosine 226 replaced with L-cysteine

inDisease true

maxDepth 1

memberOf

[DefinedSet:R-HSA-2471705] RDH12 LOF variants [photoreceptor inner segment membrane] - Homo sapiens

modified [InstanceEdit:9634482] Jassal, Bijay, 2019年01月11日

name

RDH12 Y226C
Retinol dehydrogenase 12 ecNumber1.1.1.-/ecNumber
RDH12_HUMAN
RDH12 Tyr226Cys

referenceEntity [ReferenceGeneProduct:uniprot:Q96NR8] UniProt:Q96NR8 RDH12

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-2471697

startCoordinate 1

updateTrackers

Referrals

(updatedInstance)

(hasMember)

[DefinedSet:R-HSA-2471705] RDH12 LOF variants [photoreceptor inner segment membrane]

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