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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
NameMMAA Y207C
Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber
MMAA_HUMAN
MMAA
Stable identifierREACT_169723.1
Links to corresponding entries in other databasesBioGPS Gene:166785
CTD Gene:166785
ENSEMBL:ENSG00000151611
GeneCards:Q8IVH4
HapMap:NM_172250
KEGG Gene:166785
NCBI Gene:166785
OMIM:251100
OMIM:607481
RefSeq:NM_172250
RefSeq:NP_758454
UCSC human:Q8IVH4
UniProt:Q8IVH4
dbSNP Gene:166785
CLASSEntityWithAccessionedSequence
Other identifiers related to this sequenceMMAA_HUMAN, B3KX40, Q495G7, ENSG00000151611, ENST00000281317, ENSP00000281317, 242750_at, 239852_at, 242702_at, 236347_at, 51941_at, 76909_at, 81239_at, Hs.27947.0.A1_3p_at, Hs.126216.0.A1_3p_at, Hs.117747.0.A1_3p_at, A_14_P137103, A_23_P144357, CCDS3766, GE641355, GE648091, GE671566, GE843961, GE857116, BC101181, BC101180, AF524846, AF524841, AF524842, AF524843, AF524844, AF524845, BC101178, BC101179, EntrezGene:166785, GI_26892294-S, ILMN_16118, IPI00217023, IPI00745690, MIM:607481, MIM:251100, AAI01182, AAI01181, AAN77287, AAI01179, AAI01180, NM_172250, NP_758454, Hs.452864, Q495G5, Q495G6, Q8IVH4, Q495G5_HUMAN, Q495G6_HUMAN, MMAA_HUMAN, IPR005129
Reference entityUniProt:Q8IVH4 MMAA
Coordinates in the reference sequence66 .. 418
Post-translational modification(s)L-tyrosine 207 replaced with L-cysteine
Cellular compartmentmitochondrial matrix GO
OrganismHomo sapiens
Is represented by generalisation(s)MMAA mutants [mitochondrial matrix]
Other forms of this moleculeMMAA [mitochondrial matrix] UKENBCdOORHGUR
MMAA R145* [mitochondrial matrix] UKENBCdOORHGUR
MMAA Q95* [mitochondrial matrix] UKENBCdOORHGUR
MMAA K88Ifs*9 [mitochondrial matrix] UKENBCdOORHGUR

REACT_169723