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

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

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
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 2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
RefSeq
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
ZINC target
PRO
Orphanet
HMDB Protein
PDB
Interactors (3)
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