DCXR |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DCXR (HGNC:18985) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dicarbonyl and L-xylulose reductase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIDCR, DCR, SDR20C1, HCR2, P34H
- %HI
- 66.61(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.36(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:79993734-79995573 NCBI Ensembl UCSC GRCh38/hg38: chr17:82035858-82037697 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016286.4 ENST00000306869.7 (Read more about MANE Select)
- Function
- Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29654
ClinGen Curation ID:
CCID:006977
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- pentosuria Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)