MMAA K88Ifs*9 [mitochondrial matrix]

Stable Identifier
R-HSA-3322147
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber, MMAA_HUMAN, MMAA
Icon
MMAA K88Ifs*9 [mitochondrial matrix] icon
MMAA K88Ifs*9 [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
HGNC:18871 MMAA
KEGG:hsa:166785 MMAA
Monarch:166785 MMAA
NCBI Entrez Gene:166785 MMAA
OMIM:607481 MMAA
UCSC:Q8IVH4 MMAA
Reference Transcript
Other Identifiers
105377467
11735204_a_at
11735205_s_at
11735206_at
166785
16971191
16971195
236347_PM_at
236347_at
237831_PM_x_at
237831_x_at
239852_PM_at
239852_at
242702_PM_at
242702_at
242750_PM_at
242750_at
2746161
2746162
2746163
2746165
2746166
2746167
2746168
2746169
2746170
2746172
2746173
2746174
2746175
2746176
2746177
2746178
2746179
2746180
2746182
2746184
3277600
48455_r_at
51941_at
76909_at
8097670
81239_at
87216_at
87219_s_at
A_14_P137103
A_21_P0003411
A_21_P0003660
A_23_P144357
A_33_P3405168
GE511633
GE618597
GE648091
GE709980
GO:0000166
GO:0003924
GO:0005515
GO:0005525
GO:0005737
GO:0005739
GO:0005759
GO:0005829
GO:0006790
GO:0009235
GO:0016787
GO:0042802
GO:0042803
GO:0055086
GO:0140104
GO:1901290
HMNXSV003006243
HMNXSV003006457
HMNXSV003007915
Hs.117747.0.A1_3p_at
Hs.126216.0.A1_3p_at
Hs.21017.0.A1_3p_at
Hs.21017.1.S1_3p_at
Hs.27947.0.A1_3p_at
ILMN_1754315
PH_hs_0022324
TC04000713.hg
TC04000714.hg
TC04002244.hg
TC04002245.hg
p12916
p22576
Participates
as a member of
Other forms of this molecule
MMAA [mitochondrial matrix]
MMAA Y207C [mitochondrial matrix]
MMAA R145* [mitochondrial matrix]
MMAA Q95* [mitochondrial matrix]
Modified Residues
Name
Replacement of residues 88 to 95 by INLNFILV
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
ENSEMBL
Mondo
HPA
GeneCards
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (1)
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