MMAA Q95* [mitochondrial matrix]

Stable Identifier
R-HSA-3322137
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber, MMAA_HUMAN, MMAA
Icon
MMAA Q95* [mitochondrial matrix] icon
MMAA Q95* [mitochondrial matrix] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q8IVH4 MMAA
Gene Names
MMAA
Chain
transit peptide:1-65, chain:66-418
Reference Genes
BioGPS Gene:166785 MMAA
COSMIC (genes):MMAA MMAA
CTD Gene:166785 MMAA
dbSNP Gene:166785 MMAA
ENSEMBL:ENSG00000151611 MMAA
ENSEMBL:ENSG00000151611.17 MMAA
HGNC:18871 MMAA
KEGG Gene (Homo sapiens):166785 MMAA
Monarch:166785 MMAA
NCBI Gene:166785 MMAA
OMIM:607481 MMAA
UCSC:Q8IVH4 MMAA
Reference Transcript
Other Identifiers
11735204_a_at
11735205_s_at
11735206_at
166785
16971191
16971195
236347_PM_at
236347_at
239852_at
242702_PM_at
242702_at
242750_PM_at
242750_at
2746161
2746162
2746166
2746167
2746168
2746169
2746172
2746173
2746176
2746177
2746178
2746179
2746180
2746184
3277600
51941_at
76909_at
8097670
81239_at
87219_s_at
A_14_P137103
A_23_P144357
A_33_P3405168
GE618597
GE648091
GE709980
GO:0000166
GO:0003824
GO:0003924
GO:0005515
GO:0005525
GO:0005737
GO:0005739
GO:0005759
GO:0005829
GO:0006766
GO:0009235
GO:0016787
GO:0042802
GO:0042803
GO:0043226
HMNXSV003006457
Hs.117747.0.A1_3p_at
Hs.126216.0.A1_3p_at
Hs.27947.0.A1_3p_at
ILMN_1754315
PH_hs_0022324
TC04000714.hg
TC04002244.hg
TC04002245.hg
Participates
as a member of
Other forms of this molecule
MMAA R145* [mitochondrial matrix]
MMAA Y207C [mitochondrial matrix]
MMAA K88Ifs*9 [mitochondrial matrix]
MMAA [mitochondrial matrix]
Modified Residues
Name
Nonsense mutation at L-glutamine 95
Coordinate
95
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
methylmalonic acidemia DOID:14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (1)
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