Reactome | MMACHC R111* [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:3318614] Jassal, B, 2013-04-29
crossReference	[DatabaseIdentifier:12020847] Mondo:0010184
dbId	3318593
disease	[Disease:3318630] methylmalonic aciduria and homocystinuria type cblC
displayName	MMACHC R111* [cytosol]
endCoordinate	282
hasModifiedResidue	[NonsenseMutation:3318610] Nonsense mutation at L-arginine 111
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-3318601] MMACHC mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:3662298] Jassal, B, 2013-06-07
name	MMACHC R111* Methylmalonic aciduria and homocystinuria type C protein MMAC_HUMAN MMACHC
referenceEntity	[ReferenceGeneProduct:uniprot:Q9Y4U1] UniProt:Q9Y4U1 MMACHC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-3318593
startCoordinate	1

(hasMember)

Cite Us!