KRT17

Chr 17q21.2

keratin 17

MANE:: ENST00000311208.13

OMIM: 148069 ↗NCBI: 3872 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KRT17 · Q04695

v62025-08-01

Predicted Aligned Error matrix for KRT17 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.3/ 100

Confident

432 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)15%
Low(50–70)8%
Very low(< 50)23%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ichthyosis and erythrokeratoderma
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Familial hidradenitis suppurativa
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Multiple monogenic benign skin tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

pachyonychia congenita 2
0.80
sebocystomatosis
0.76
pachyonychia congenita
0.60
hereditary disease
0.41
nonsyndromic congenital nail disorder 4
0.35
Abnormality of the skin
0.34
ovarian dysfunction
0.23
temporomandibular joint disorder
0.17
sialolithiasis
0.17
psoriasis
0.12

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

Protein function (UniProt)

Keratin, type I cytoskeletal 17

Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial 'stem cells'. Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation