Reactome: A Curated Pathway Database

MMAA K88Ifs*9 (R-HSA-3322147)

Species Homo sapiens

Additional Information
External reference name MMAA
External reference id Q8IVH4
Synonyms Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber, MMAA_HUMAN
Compartment mitochondrial matrix
Other Identifiers 0007100129, 11735204_a_at, 11735205_s_at, 11735206_at, 166785, 236347_at, 239852_at, 242702_at, 242750_at, 2WWW, 51941_at, 76909_at, 81239_at, A_14_P137103, A_23_P144357, 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, Hs.117747.0.A1_3p_at, Hs.126216.0.A1_3p_at, Hs.27947.0.A1_3p_at, ILMN_1754315, IPR003495, IPR005129, IPR027417, MIM:251100, MIM:607481, MMAA, MMAA-001, NM_172250, NP_758454, OTTHUMP00000220104, PF02492, PF03308, PH_hs_0022324, REACT_111217, REACT_11193, REACT_11238, REACT_116125, REACT_1473, REACT_163862, REACT_169120, REACT_169132, REACT_169149, REACT_169169, REACT_169178, REACT_169238, REACT_169256, REACT_169280, REACT_169312, REACT_169313, REACT_169316, REACT_169318, REACT_169363, REACT_169385, REACT_169403, REACT_169415, REACT_169429, REACT_169439, REACT_22258, REACT_22279, REACT_993, uc003ikh.4, UPI000005032D, XM_006714118, XP_006714181, XP_011529986, XP_011529987
Secondary Identifiers MMAA_HUMAN, B3KX40, Q495G7
Gene Names MMAA
Chain transit peptide:1-65, chain:66-418
This entry is a component of:
hasMember
Reference Genes
Database Identifier
dbSNP Gene 166785
CTD Gene 166785
BioGPS Gene 166785
NCBI Gene 166785
ENSEMBL ENSG00000151611
KEGG Gene 166785
Orphanet 16413
OMIM 251100
Reference Transcripts
Database Identifier
RefSeq NM_172250
Cross References
Database Identifier
RefSeq NP_758454
HMDB_protein HMDBP03093
PRO Q8IVH4
GeneCards Q8IVH4
UCSC human Q8IVH4
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]
ModifiedResidues
Name Coordinate Modification PsiMod Name PsiMod Identifier PsiMod Definition
Replacement of residues 88 to 95 by INLNFILV