KRT83 (keratin 83)

2014-11-01  

Identity

HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
EKVP5,HB3,Hb-3,KRTHB3,MNLIX

Other Information

Locus ID:

NCBI: 3889
MIM: 602765
HGNC: 6460
Ensembl: ENSG00000170523

Variants:

dbSNP: 3889
ClinVar: 3889
TCGA: ENSG00000170523
COSMIC: KRT83

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170523ENST00000293670P78385

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
157974582005Keratins of the human hair follicle.39
157440292005A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.10
255572322015Novel KRT83 and KRT86 mutations associated with monilethrix.2
279653752017Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of <i>KRT83</i> and is allelic with dominant monilethrix.0

Citation

Dessen P

KRT83 (keratin 83)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65045/krt83