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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
IdentifierUniProt:Q9Y4U1
DatabaseUniProt
SpeciesHomo sapiens
DescriptionrecommendedName: Methylmalonic aciduria and homocystinuria type C protein
Links to corresponding entries in other databasesBioGPS Gene:25974
CTD Gene:25974
ENSEMBL:ENSG00000132763
GeneCards:Q9Y4U1
HapMap:NM_015506
KEGG Gene:25974
NCBI Gene:25974
OMIM:277400
OMIM:609831
RefSeq:NM_015506
RefSeq:NP_056321
UCSC human:Q9Y4U1
UniProt:Q9Y4U1
dbSNP Gene:25974
Other identifiers related to this sequenceMMAC_HUMAN, Q5T157, Q9BRQ7, ENSG00000132763, ENST00000401061, ENSP00000383840, ENST00000401060, ENSP00000383839, ENST00000372082, ENSP00000361154, 215662_at, 211774_s_at, 41213_at, 37832_at, X67951_at, Hs.306804.0.S1_3p_at, g13543966_3p_s_at, g440305_3p_s_at, A_24_P83586, A_32_P186463, GE900201, AL451136, AL080062, BC006122, EntrezGene:25974, GI_37547052-S, ILMN_17978, IPI00001053, MIM:609831, MIM:277400, OTTHUMP00000009243, OTTHUMT00000020864, CAB45693, CAI13094, AAH06122, NM_015506, NP_056321, Hs.13024, Q9Y4U1, MMAC_HUMAN
Molecules with this sequenceMMACHC [cytosol] UKENBCdOORHGUR
MMACHC R132* [cytosol] UKENBCdOORHGUR
MMACHC R111* [cytosol] UKENBCdOORHGUR
MMACHC R91Kfs*14 [cytosol] UKENBCdOORHGUR
MMACHC R161Q [cytosol] UKENBCdOORHGUR
MMACHC W203* [cytosol] UKENBCdOORHGUR
Component ofMMACHC:cob(II)alamin [cytosol]
MMACHC:MMADHC [cytosol]
MMACHC:MMADHC:cob(II)alamin [cytosol]
Represented by generalisation(s)MMACHC mutants [cytosol]
Processes where molecules and complexes with this sequence are involved

Metabolism

Disease

Modifications in molecules with this sequenceL-arginine 132 replaced with unknown
L-arginine 161 replaced with L-glutamine
L-arginine 111 replaced with unknown
Replacement of residues 91 to 103 by KREPPRAADRNHC
L-tryptophan 203 replaced with unknown
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