DCXR H195Tfs*7 [plasma membrane]

Stable Identifier
R-HSA-5662854
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
L-xylulose reductase H195Tfs*7
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
22042873 Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

King, MC, Fokstuen, S, Lee, MK, Levy-Lahad, E, Motulsky, AG, Maccoss, MJ, Stray, SM, Bereman, MS, Spurrell, CH, Zeligson, S, Pierce, SB, Mandell, JB

Proc. Natl. Acad. Sci. U.S.A. 2011
External Reference Information
External Reference
UniProt:Q7Z4W1 DCXR
Gene Names
DCXR, SDR20C1
Chain
chain:1-244
Reference Genes
BioGPS Gene:51181 DCXR
COSMIC (genes):DCXR DCXR
CTD Gene:51181 DCXR
dbSNP Gene:51181 DCXR
ENSEMBL:ENSG00000169738 DCXR
HGNC:18985 DCXR
KEGG Gene (Homo sapiens):51181 DCXR
Monarch:51181 DCXR
NCBI Gene:51181 DCXR
OMIM:608347 DCXR
UCSC:Q7Z4W1 DCXR
Reference Transcript
Other Identifiers
0000050014
16850069
217973_at
3774538
3774539
3774542
3774544
3774546
3774549
3774550
3774552
3774554
51181
57729_at
8019357
A_23_P44166
GE79226
GO:0003674
GO:0004090
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005634
GO:0005737
GO:0005856
GO:0005881
GO:0005886
GO:0005902
GO:0005903
GO:0005975
GO:0005997
GO:0006006
GO:0006739
GO:0008150
GO:0009056
GO:0009058
GO:0016020
GO:0016491
GO:0016614
GO:0016655
GO:0019640
GO:0042732
GO:0042802
GO:0043226
GO:0044105
GO:0044281
GO:0050038
GO:0055114
GO:0070062
GO:2000379
HMNXSV003050453
ILMN_1681437
PH_hs_0001021
TC17001970.hg
TC17002831.hg
g7705924_3p_s_at
Other forms of this molecule
DCXR [plasma membrane]
Modified Residues
Name
Replacement of residues 195 to 201 by TRPRLC
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
ZINC target
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (3)
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