Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

A456V MCCC2 [mitochondrial matrix] Show undefined attributes

compartment

[Compartment:5460] mitochondrial matrix

created [InstanceEdit:9909458] Rothfels, Karen, 2024年05月13日

crossReference

dbId 9909449

disease

displayName A456V MCCC2 [mitochondrial matrix]

endCoordinate 563

hasModifiedResidue

[ReplacedResidue:9909464] L-alanine 456 replaced with L-valine

inDisease true

literatureReference

[LiteratureReference:9908587] 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening
[LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

maxDepth 1

memberOf

[DefinedSet:R-HSA-9914221] MCCC2 mutants [mitochondrial matrix] - Homo sapiens

modified [InstanceEdit:9914207] Rothfels, Karen, 2024年06月21日

name

A456V MCCC2
methylcrotonyl-CoA carboxylase beta chain

referenceEntity [ReferenceGeneProduct:uniprot:Q9HCC0] UniProt:Q9HCC0 MCCC2

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9909449

startCoordinate 23

Referrals

(hasMember)

[DefinedSet:R-HSA-9914221] MCCC2 mutants [mitochondrial matrix]

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