MMAA K88Ifs*9 [mitochondrial matrix]

Stable Identifier
R-HSA-3322147
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber, MMAA_HUMAN, MMAA
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MMAA
Chain
transit peptide:1-65, chain:66-418
Other Identifiers
0007100129
11735204_a_at
11735205_s_at
11735206_at
166785
16971191
16971195
236347_at
239852_at
242702_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:0003674
GO:0003924
GO:0005515
GO:0005525
GO:0005575
GO:0005622
GO:0005737
GO:0005739
GO:0005759
GO:0006629
GO:0008150
GO:0009056
GO:0009235
GO:0016787
GO:0019626
GO:0042802
GO:0042803
GO:0043167
GO:0043226
GO:0044281
GO:0051186
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
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 88 to 95 by INLNFILV
Disease
Name Identifier Synonyms
methylmalonic acidemia 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
Cite Us!