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
16664091
211774_s_at
2334353
2334355
2334356
2334357
2334358
2334359
2334360
2334361
2334362
2334363
2334364
2334365
2334366
2334367
2334368
2334369
25974
27394
27399
27402
37832_at
3SBY
3SBZ
3SC0
3SOM
5UOS
7901102
A0A0C4DGU2
A_23_P418282
A_24_P83586
A_33_P3390643
AAH06122
AL080062
AL451136
BC006122
CAB45693
CCDS41324
ENSG00000132763
ENSP00000383840
ENST00000401061
ENST00000401061.8
EntrezGene:25974
g13543966_3p_s_at
GE900201
GO:0003674
GO:0005515
GO:0005575
GO:0005737
GO:0005829
GO:0006749
GO:0006790
GO:0009058
GO:0009235
GO:0009236
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
HGNC:24525
HPA027394
HPA027399
HPA027402
ILMN_1803005
IPR032037
MIM:277400
MIM:609831
MMACHC
MMACHC-201
NM_015506
NP_056321
PF16690
PH_hs_0001253
TC01000573.hg
UPI00001C1D6D
XM_005270724
XP_005270781
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
HMDB Protein
PDB