Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person H190Y MCCC2 [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9909469
_displayNameH190Y MCCC2 [mitochondrial matrix]
_timestamp2024-06-21 19:19:33
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9909458] Rothfels, Karen, 2024-05-13
crossReference[DatabaseIdentifier:9909445] ClinGen:CA275357
disease[Disease:9909434] 3-methylcrotonyl-CoA carboxylase deficiency
[Disease:9909468] 3-Methylcrotonyl-CoA carboxylase 2 deficiency
endCoordinate563
hasModifiedResidue[ReplacedResidue:9909446] L-histidine 190 replaced with L-tyrosine
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
modified[InstanceEdit:9914207] Rothfels, Karen, 2024-06-21
nameH190Y MCCC2
methylcrotonyl-CoA carboxylase beta chain
referenceEntity[ReferenceGeneProduct:59059] UniProt:Q9HCC0 MCCC2 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9909475] R-HSA-9909469.1
startCoordinate23
(hasMember)[DefinedSet:9914221] MCCC2 mutants [mitochondrial matrix] [Homo sapiens]
[Change default viewing format]
No pathways have been reviewed or authored by H190Y MCCC2 [mitochondrial matrix] (9909469)
Follow Reactome