KREMEN1 Chromosome 22
Kringle containing transmembrane protein 1
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What This Gene Does
This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Mutations in this gene result in ectodermal dysplasia. This protein has also been found to be a functional receptor for Coxsackievirus A10 and may be an alternative entry receptor for SARS-CoV-2. [provided by RefSeq, Nov 2021]
Gene Info
Gene Group
Kringle domain containing
Locus Type
gene with protein product
Location
22q12.1
Ensembl
ENSG00000183762
Associated Conditions (3)
Inborn genetic diseases
Ectodermal dysplasia 13
hair/tooth type
Key Variants
RS376600397
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057524917
Pathogenic
Ectodermal dysplasia 13, hair/tooth type, Ectodermal dysplasia 13
Health Risk
RS2517684309
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376600397 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057524917 | Health Risk | Pathogenic | Ectodermal dysplasia 13, hair/tooth type, Ectodermal dysplasia 13 |
| RS2517684309 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |