Identity
HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
HEL-S-95n,RDH,SDH,SORD1,SORDD,XDH
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6652
MIM: 182500
HGNC: 11184
Ensembl: ENSG00000140263
Variants:
dbSNP: 6652
ClinVar: 6652
TCGA: ENSG00000140263
COSMIC: SORD
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000140263 | ENST00000267814 | Q00796 |
| ENSG00000140263 | ENST00000558789 | Q00796 |
| ENSG00000140263 | ENST00000559230 | H0YKB3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37418112 | 2024 | Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings. | 0 |
| 37418112 | 2024 | Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings. | 0 |
| 37584201 | 2023 | Expanding 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 |
| 37584201 | 2023 | Expanding 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 |
| 35436891 | 2022 | Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy. | 2 |
| 35436891 | 2022 | Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy. | 2 |
| 33314640 | 2021 | Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease. | 12 |
| 33875678 | 2021 | Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients. | 6 |
| 33314640 | 2021 | Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease. | 12 |
| 33875678 | 2021 | Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients. | 6 |
| 31539366 | 2019 | Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese. | 8 |
| 31539366 | 2019 | Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese. | 8 |
| 27628063 | 2016 | Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5. | 9 |
| 27628063 | 2016 | Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5. | 9 |
| 24567419 | 2014 | Sorbitol 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/sord
