SORD (sorbitol dehydrogenase)

2010-08-01  

Identity

HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
HEL-S-95n,RDH,SDH,SORD1,SORDD,XDH
FUSION GENES

Other Information

Locus ID:

NCBI: 6652
MIM: 182500
HGNC: 11184
Ensembl: ENSG00000140263

Variants:

dbSNP: 6652
ClinVar: 6652
TCGA: ENSG00000140263
COSMIC: SORD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140263ENST00000267814Q00796
ENSG00000140263ENST00000558789Q00796
ENSG00000140263ENST00000559230H0YKB3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Pentose and glucuronate interconversionsKEGGko00040
Fructose and mannose metabolismKEGGko00051
Pentose and glucuronate interconversionsKEGGhsa00040
Fructose and mannose metabolismKEGGhsa00051
Metabolic pathwaysKEGGhsa01100
Glucuronate pathway (uronate pathway)KEGGM00014
Glucuronate pathway (uronate pathway)KEGGhsa_M00014
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Fructose metabolismREACTOMER-HSA-5652084
Fructose biosynthesisREACTOMER-HSA-5652227
Catabolism of glucuronate to xylulose-5-phosphateREACTOMER-HSA-5661270

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
374181122024Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.0
374181122024Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.0
375842012023Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.1
375842012023Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.1
354368912022Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.2
354368912022Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.2
333146402021Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.12
338756782021Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.6
333146402021Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.12
338756782021Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.6
315393662019Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese.8
315393662019Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese.8
276280632016Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5.9
276280632016Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5.9
245674192014Sorbitol dehydrogenase overexpression and other aspects of dysregulated protein expression in human precancerous colorectal neoplasms: a quantitative proteomics study.21

Citation

Dessen P

SORD (sorbitol dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51608/tumors-explorer/haematological-explorer/js/template.js