MMADHC R250* [cytosol]

Stable Identifier
R-HSA-3318608
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMAD_HUMAN, MMADHC
Icon
MMADHC R250* [cytosol] icon
MMADHC R250* [cytosol] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q9H3L0 MMADHC
Gene Names
MMADHC, C2orf25, CL25022, HSPC161, My011
Chain
transit peptide:1-38, chain:39-296
Reference Genes
BioGPS Gene:27249 MMADHC
COSMIC (genes):MMADHC MMADHC
CTD Gene:27249 MMADHC
dbSNP Gene:27249 MMADHC
ENSEMBL:ENSG00000168288 MMADHC
ENSEMBL_homo_sapiens_GENE:ENSG00000168288.13 MMADHC
HGNC:25221 MMADHC
KEGG Gene (Homo sapiens):27249 MMADHC
Monarch:27249 MMADHC
NCBI Gene:27249 MMADHC
OMIM:611935 MMADHC
UCSC:Q9H3L0 MMADHC
Reference Transcript
Other Identifiers
11722207_a_at
16903461
217883_PM_at
217883_at
2580643
2580644
2580645
2580646
2580652
2580653
2580654
2580655
2580657
2580658
2580663
2580664
2580665
2580666
2580667
27249
3369042
65896_at
8055672
A_23_P94932
GE61183
GO:0005515
GO:0005737
GO:0005739
GO:0005829
GO:0006766
GO:0009235
GO:0043226
HMNXSV003053836
ILMN_1810759
ILMN_2090558
PH_hs_0000545
TC02002415.hg
g7661547_3p_at
Participates
as a member of
Other forms of this molecule
MMADHC [cytosol]
MMADHC T182N [cytosol]
MMADHC L259P [cytosol]
MMADHC Y249C [cytosol]
MMADHC Y140* [cytosol]
MMADHC R54* [cytosol]
MMADHC S20* [cytosol]
Modified Residues
Name
Nonsense mutation at L-arginine 250
Coordinate
250
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblD DOID:0050716 Cobalamin D deficiency
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (6)
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