Reactome: A Curated Pathway Database
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MMAA K88Ifs*9

Stable Identifier
R-HSA-3322147
Type
Protein
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
Reference Genes
Reference Transcript
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  2746184  2WWW
 3277600  51941_at  76909_at  81239_at  A_14_P137103
 A_33_P3405168  AAI01179  AAI01180  AAN77287  AF524841
 AF524842  AF524843  AF524844  AF524845  AF524846
 AK126662  BAG54352  BC101178  BC101179  CCDS3766
 CH471056  EAX05036  ENSG00000151611  ENSP00000281317  ENST00000281317
 EntrezGene:166785  GE648091  GE709980  HGNC:18871  HPA037361
 ILMN_1754315  IPR005129  IPR027417  MIM:607481  MMAA
 MMAA-001  NM_172250  NP_758454  PF03308  PH_hs_0022324
 Q495G5  uc003ikh.5  UPI000005032D  XM_011531684  XM_011531685
 XP_011529986  XP_011529987
Participant Of
Other forms of this molecule
Modified Residues
Name Coordinate Modification PsiMod
Replacement of residues 88 to 95 by INLNFILV
Disease
Diseases
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
RefSeq
UCSC human
GeneCards
DOCK Blaster
PRO
HMDB_protein
Protein Data Bank