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
16971195
236347_at
239852_at
242702_at
242750_at
2746165
2746166
2746167
2746168
2746169
2746172
2746173
2746176
2746177
2746178
2746179
2746180
2746182
2WWW
3277600
37361
51941_at
76909_at
8097670
81239_at
A_14_P137103
A_33_P3405168
AAI01179
AAI01180
AAN77287
AF524841
AF524842
AF524843
AF524844
AF524845
AF524846
AK126662
BAG54352
BC101178
BC101179
CCDS3766
CH471056
D6RIS5
EAX05036
ENSG00000151611
ENSP00000281317
ENST00000281317
EntrezGene:166785
GE648091
GE709980
GO:0000166
GO:0003674
GO:0003924
GO:0005515
GO:0005525
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005759
GO:0008150
GO:0009058
GO:0009235
GO:0009236
GO:0016787
GO:0034641
GO:0042802
GO:0042803
GO:0043167
GO:0043226
GO:0044281
GO:0051186
HGNC:18871
HPA037361
Hs.117747.0.A1_3p_at
Hs.126216.0.A1_3p_at
Hs.27947.0.A1_3p_at
ILMN_1754315
IPR005129
IPR027417
MIM:251100
MIM:607481
MMAA
MMAA-201
PF03308
PH_hs_0022324
Q495G5
TC04000714.hg
TC04002245.hg
uc003ikh.5
UPI000005032D
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
Cross References
OpenTargets
GeneCards
DOCK Blaster
PRO
Orphanet
PDB
HMDB Protein