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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
Orphanet:16451
PRO:Q9Y4U1
RefSeq:NM_015506
RefSeq:NP_056321
UCSC human:Q9Y4U1
UniProt:Q9Y4U1
dbSNP Gene:25974
Other identifiers related to this sequenceMMAC_HUMAN, Q5T157, Q9BRQ7, 25974, MMACHC, 2334371, 7901102, 2334368, Hs2.33074.1.S1_3p_at, MIM:277400, 2334363, 3SOM, 2334360, 16664091, MIM:603174, HPA027402, CAB45693, HPA027399, 0004560603, 2334364, HPA027394, 211774_s_at, CAI13094, 3SC0, 2334353, ILMN_1803005, 2334365, 2334355, g13543966_3p_s_at, HGNC:24525, Hs.681569, uc009vxv.3, AAH06122, 2334366, ENSG00000132763, 16311595, CCDS41324, PH_hs_0001253, A_33_P3390643, 2334362, A_23_P418282, PR01217, OTTHUMP00000009243, BC006122, EntrezGene:25974, 2334359, 2334356, 2334367, NM_015506, AL451136, Hs.13024, NP_056321, MMACHC-001, 37832_at, 11725013_at, 2334357, 1566084_at, 2334352, 3SBZ, ENSP00000383840, GE900201, AL080062, MIM:609831, UPI00001C1D6D, 3SBY, A_24_P83586, 2334358, 2334361, 2334369
Molecules with this sequenceMMACHC [cytosol] UKENBCdOOORHPGUR
MMACHC R132* [cytosol] UKENBCdOOORHPGUR
MMACHC R111* [cytosol] UKENBCdOOORHPGUR
MMACHC R91Kfs*14 [cytosol] UKENBCdOOORHPGUR
MMACHC R161Q [cytosol] UKENBCdOOORHPGUR
MMACHC W203* [cytosol] UKENBCdOOORHPGUR
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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