MMAA Q95* [mitochondrial matrix]

Stable Identifier
R-HSA-3322137
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
L-glutamine 95 replaced with unknown
Coordinate
95
PsiMod
A protein modification that effectively removes or replaces an L-glutamine.
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