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: 3889
MIM: 602765
HGNC: 6460
Ensembl: ENSG00000170523
Variants:
dbSNP: 3889
ClinVar: 3889
TCGA: ENSG00000170523
COSMIC: KRT83
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170523 | ENST00000293670 | P78385 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 27965375 | 2017 | Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. | 4 |
| 27965375 | 2017 | Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. | 4 |
| 25557232 | 2015 | Novel KRT83 and KRT86 mutations associated with monilethrix. | 5 |
| 25557232 | 2015 | Novel KRT83 and KRT86 mutations associated with monilethrix. | 5 |
| 15744029 | 2005 | A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. | 13 |
| 15797458 | 2005 | Keratins of the human hair follicle. | 53 |
| 15744029 | 2005 | A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. | 13 |
| 15797458 | 2005 | Keratins of the human hair follicle. | 53 |
Citation
Dessen P
KRT83 (keratin 83)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/65045/krt83-(keratin-83)
