KDF1

Chr 1p36.11

keratinocyte differentiation factor 1

Aliases:: FLJ34633, RP11-344H11.3
MANE:: ENST00000320567.6

OMIM: 616758 ↗NCBI: 126695 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KDF1 · Q8NAX2

v62025-08-01

Predicted Aligned Error matrix for KDF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.9/ 100

Low

398 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)19%
Low(50–70)25%
Very low(< 50)45%

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, imprinted status unknown

Disease associations (Open Targets)

autosomal dominant hypohidrotic ectodermal dysplasia
0.52
gout
0.31
Hypodontia
0.29
hereditary disease
0.19
essential hypertension
0.15
type 2 diabetes mellitus
0.13
neoplasm
0.10
metabolic disease
0.09
cancer
0.08
tooth agenesis
0.08

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

Protein function (UniProt)

Keratinocyte differentiation factor 1

Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity)