rs1057524917

This is a variant in the KREMEN1 gene that changes a phenylalanine to an serine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Ectodermal dysplasia 13, hair/tooth type (ECTD13)

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About KREMEN1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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