H190Y MCCC2 [mitochondrial matrix]

Stable Identifier
R-HSA-9909469
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
methylcrotonyl-CoA carboxylase beta chain
Icon
H190Y MCCC2 [mitochondrial matrix] icon
H190Y MCCC2 [mitochondrial matrix] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
16010683 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening

Coelho, D, Randolph, A, Dantas, MF, Baumgartner, MR, Suormala, T, Valle, D, Fowler, B

Hum Mutat 2005
22642865 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

Kölker, S, Morscher, RJ, Wilcken, B, Burda, P, Stucki, M, Fowler, B, Christensen, E, Santer, R, Baumgartner, MR, Herwig, J, Suormala, T, Grünert, SC, Pasquini, E, Ficicioglu, C, Bürer, C, Schwab, KO, Yue, WW, Möslinger, D

Orphanet J Rare Dis 2012
External Reference Information
External Reference
UniProt:Q9HCC0 MCCC2
Gene Names
MCCC2, MCCB
Chain
transit peptide:1-22, chain:23-563
Reference Genes
BioGPS Gene:64087 MCCC2
COSMIC (genes):MCCC2 MCCC2
CTD Gene:64087 MCCC2
dbSNP Gene:64087 MCCC2
ENSEMBL:ENSG00000131844 MCCC2
HGNC:6937 MCCC2
KEGG:hsa:64087 MCCC2
Monarch:64087 MCCC2
NCBI Gene:64087 MCCC2
OMIM:609014 MCCC2
UCSC:Q9HCC0 MCCC2
Reference Transcript
Other Identifiers
11729236_at
11729237_a_at
1556345_PM_s_at
1556345_s_at
1560033_PM_at
1560033_at
16985911
209623_PM_at
209623_at
209624_PM_s_at
209624_s_at
233231_PM_at
233231_at
2814641
2814643
2814644
2814647
2814648
2814649
2814650
2814651
2814652
2814655
2814663
2814664
2814665
2814666
2814667
2814668
2814669
2814670
2814671
2814672
2814673
2814674
2814675
2814676
2814677
2814678
2814679
2814680
2814681
2814682
2814687
2814688
2814689
2814690
2814691
2814692
36432_at
43695_at
64087
72262_at
8106068
8177601
88457_at
A_14_P111147
A_14_P122432
A_23_P18887
GE56317
GE88197
GE905935
GO:0002169
GO:0003824
GO:0004485
GO:0005515
GO:0005524
GO:0005739
GO:0005759
GO:0005829
GO:0006520
GO:0006552
GO:0009083
GO:0015936
GO:0016874
GO:0043226
GO:0055086
GO:1901135
GO:1905202
HMNXSV003034390
Hs.167531.0.S2_3p_at
Hs.272240.0.S1_3p_at
Hs2.288415.1.S1_3p_at
Hs2.407347.1.S1_3p_s_at
PH_hs_0019391
PH_hs_0027271
PH_hs_0038535
TC05000334.hg
g10934058_3p_a_at
Participates
as a member of
Other forms of this molecule
MCCC2 [mitochondrial matrix]
MCCC2 [cytosol]
E99Q MCCC2 [mitochondrial matrix]
S173L MCCC2 [mitochondrial matrix]
V339M MCCC2 [mitochondrial matrix]
G352R MCCC2 [mitochondrial matrix]
A456V MCCC2 [mitochondrial matrix]
Modified Residues
Name
L-histidine 190 replaced with L-tyrosine
Coordinate
190
PsiMod
L-tyrosine residue
A protein modification that effectively converts a source amino acid residue to L-tyrosine.
L-histidine removal [MOD:01639]
A protein modification that effectively removes or replaces an L-histidine.
Disease
Name Identifier Synonyms
3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 3MCC deficiency, BMCC deficiency, 3-Methylcrotonylglycinuria
3-Methylcrotonyl-CoA carboxylase 2 deficiency DOID:0080580
Cross References
ClinGen
OpenTargets
ENSEMBL
HPA
GeneCards
PRO
Pharos - Targets
Orphanet
GlyGen
PDB
HMDB Protein
Interactors (1)
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