R170H BCKDHB [mitochondrial matrix]

Stable Identifier
R-HSA-9865071
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
branched chain keto acid dehydrogenase E1, beta polypeptide
R170H BCKDHB [mitochondrial matrix] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
22326532 Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)

Zhao, YJ, Li, TT, Qi, ML, Wang, YP

Gene 2012
External Reference Information
External Reference
Gene Names
BCKDHB
Chain
transit peptide:1-50, chain:51-392
Other Identifiers
11723021_a_at
11723022_at
11723023_x_at
11724673_a_at
17010584
210653_PM_s_at
210653_s_at
213321_PM_at
213321_at
2914821
2914822
2914826
2914827
2914828
2914829
2914830
2914831
2914832
2914833
2914836
2914837
2914855
2914857
2914873
2914874
2914875
2914876
2914877
41682_s_at
41684_at
594
8120860
A_14_P110534
A_14_P128753
A_23_P93464
A_24_P914513
A_33_P3352873
GE79124
GO:0003824
GO:0003863
GO:0005515
GO:0005654
GO:0005730
GO:0005739
GO:0005759
GO:0006520
GO:0006629
GO:0007584
GO:0009083
GO:0016491
GO:0043226
GO:0044877
GO:0045252
GO:0047101
GO:0051384
GO:0051591
GO:0160157
HMNXSV003003913
HMNXSV003020268
Hs.1265.2.A1_3p_at
ILMN_1655433
ILMN_1764166
ILMN_2259949
ILMN_2390453
RNA147054|p0158_imsncRNA249
RNA147055|p0159_imsncRNA249
RNA147056|p0160_imsncRNA249
TC06000762.hg
U50708_at
g179361_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 170 replaced with L-histidine
Coordinate
170
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
maple syrup urine disease DOID:9269 dihydrolipoamide dehydrogenase deficiency
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