KREMEN1

Chr 22q12.1

kringle containing transmembrane protein 1

Aliases:: KRM1
MANE:: ENST00000400335.9

OMIM: 609898 ↗NCBI: 83999 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KREMEN1 · Q96MU8

v62025-08-01

Predicted Aligned Error matrix for KREMEN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.9/ 100

Confident

473 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)4%
Low(50–70)4%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

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

Disease associations (Open Targets)

autosomal recessive hypohidrotic ectodermal dysplasia
0.53
hereditary disease
0.42
hair color
0.38
vein disorder
0.28
lymphatic system disorder
0.28
androgenetic alopecia
0.27
hypertensive disorder
0.27
DNA methylation
0.25
alcohol drinking
0.24
idiopathic pulmonary fibrosis
0.22

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

Protein function (UniProt)

Kremen protein 1

Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification