MMACHC R91Kfs*14 [cytosol]

Stable Identifier
R-HSA-3318604
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Methylmalonic aciduria and homocystinuria type, MMAC_HUMAN, MMACHC
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MMACHC
Chain
chain:1-282
Other Identifiers
0004560603
11725013_at
1566084_at
16664091
211774_s_at
2334353
2334355
2334356
2334357
2334358
2334359
2334360
2334361
2334362
2334363
2334364
2334365
2334366
2334367
2334368
2334369
2334371
25974
37832_at
7901102
A_23_P418282
A_24_P83586
A_33_P3390643
GE900201
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0006749
GO:0006790
GO:0008150
GO:0009235
GO:0016491
GO:0031419
GO:0032451
GO:0033787
GO:0034641
GO:0042803
GO:0043167
GO:0043295
GO:0044281
GO:0051186
GO:0055114
GO:0070988
GO:0071949
Hs2.33074.1.S1_3p_at
ILMN_1803005
PH_hs_0001253
TC01000573.hg
g13543966_3p_s_at
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 91 to 103 by KREPPRAADRNHC
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblC 0050715 Cobalamin C deficiency
Cross References
OpenTargets
GeneCards
PRO
Orphanet
PDB
HMDB Protein
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