Reactome | cholesterol site variants of SHH [endoplasmic reticulum lumen]

Schema > CandidateSet > Entries

candidateOf	[CandidateSet:R-HSA-5358456] SHH variants [endoplasmic reticulum lumen] - Homo sapiens
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5358449] Rothfels, Karen, 2014-03-28
crossReference	[DatabaseIdentifier:12020839] Mondo:0016296
dbId	5358450
disease	[Disease:5358398] holoprosencephaly
displayName	cholesterol site variants of SHH [endoplasmic reticulum lumen]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-5358441] SHH(24-462) C198F [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358437] SHH(24-462) G196E [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358433] SHH(24-462) G196V [endoplasmic reticulum lumen] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:5358247] The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
maxDepth	2
modified	[InstanceEdit:5387396] Rothfels, Karen, 2014-04-29
name	cholesterol site variants of SHH
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5358450

(hasCandidate)

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