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Entries
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
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authored
[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
created
[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
crossReference
[DatabaseIdentifier:12819515] BioModels Database:BIOMD0000000054
[DatabaseIdentifier:12020983] Mondo:0018910
dbId
5619036
disease
[Disease:5626323] oculocutaneous albinism
displayName
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
edited
[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
eventOf
[Pathway:R-HSA-5619102] SLC transporter disorders - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5626356] Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+ - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019-03-25
literatureReference
[LiteratureReference:5626362] NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes
[LiteratureReference:5626340] Mutational analysis of oculocutaneous albinism: a compact review
[LiteratureReference:5626354] SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism
maxDepth
2
modified
[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
normalPathway
[Pathway:R-HSA-425410] Metal ion SLC transporters
releaseDate
2015-09-22
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5619036
summation
[Summation:5626361] Five members of the NCKX (SLC24) family are all able to exch...
updateTrackers
[UpdateTracker:9778011] Update Tracker - [Pathway:5619036] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9778011] Update Tracker - [Pathway:5619036] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-5619102] SLC transporter disorders
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