KRT85

Chr 12q13.13

keratin 85

Aliases:: Hb-5
MANE:: ENST00000257901.7

OMIM: 602767 ↗NCBI: 3891 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

KRT85 · P78386

v62025-08-01

Predicted Aligned Error matrix for KRT85 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.1/ 100

Confident

507 residues

Confidence breakdown

Very high(≥ 90)52%
Confident(70–90)8%
Low(50–70)7%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia without a known gene mutation
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pure hair and nail ectodermal dysplasia
0.64
placenta praevia
0.07
Leber congenital amaurosis
0.06
retinitis pigmentosa
0.06
Familial exudative vitreoretinopathy
0.05
Bardet-Biedl syndrome
0.05
nephronophthisis
0.05
Cone rod dystrophy
0.05
Stargardt disease
0.05
hepatorenocardiac degenerative fibrosis
0.05

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

Protein function (UniProt)

Keratin, type II cuticular Hb5

Structural component of intermediate filaments in the hair follicle (PubMed:16525032). As a type II hair keratin, participates in the formation of keratin intermediate filament networks by forming obligate heterodimers with type I hair keratins (PubMed:16525032). Expressed at early stages of hair differentiation in matrix cells and later in cuticle-forming cells, where it contributes to the structural integrity and mechanical resilience of the hair shaft (PubMed:16525032)