KRT83

Chr 12q13.13

keratin 83

Aliases:: Hb-3
MANE:: ENST00000293670.3

OMIM: 602765 ↗NCBI: 3889 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

KRT83 · P78385

v62025-08-01

Predicted Aligned Error matrix for KRT83 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.8/ 100

Confident

493 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)10%
Low(50–70)6%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ectodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

monilethrix
0.63
erythrokeratodermia variabilis
0.50
monilethrix-3
0.42
monilethrix-1
0.23
sebaceous of Jadassohn nevus
0.03
lagophthalmos
0.03
colorectal carcinoma
0.03
preeclampsia
0.03
colorectal cancer
0.02
coronary artery disorder
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Keratin, type II cuticular Hb3

Structural component of intermediate filaments in the hair cortex (PubMed:15744029, PubMed:25557232). Forms obligate heterodimers with type I hair keratins, which assemble into keratin intermediate filaments that contribute to the structural integrity and mechanical strength of the hair shaft (PubMed:15744029, PubMed:25557232)