Gene
KRT83
keratin 83
- HGNC 6460↗(opens in a new tab)
- Ensembl gene ENSG00000170523↗(opens in a new tab)
- NCBI Gene 3889↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.13
- Coordinates
- Chromosome 12: 52,314,301–52,321,398 (GRCh38)
- Exons
- 9 exons across 7.1 kb
- Protein
- 493 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- Hb-3
- Previous symbols
- KRTHB3
- MANE Select transcript
- ENST00000293670.3NM_002282.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Hereditary Hypotrichosis, Woolly Hair and Monilethrix
- MonilethrixAutosomal dominant
Beaded, fragile hair that breaks easily, caused by hair keratin variants.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How KRT83 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 7.1 kb; 1,482 of those bases code for the protein.
How a genome test reads KRT83
3
positions in KRT83 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (33%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 7.1 kb of KRT83, introns included, not only the 1.9 kb of exons.
Genes linked to the same conditions
Traits linked to KRT83
The Human Phenotype Ontology lists these as features of the rare conditions KRT83 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). KRT83 gene: keratin 83. Retrieved 16 October 2026, from https://dantelabs.com/genes/krt83
Dante Labs. KRT83 gene: keratin 83 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/krt83
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