KREMEN1 kringle containing transmembrane protein 1
Gene ID: 83999, updated on 3-Apr-2024Gene type: protein coding
Also known as: KRM1; ECTD13; KREMEN
- See all available tests in GTR for this gene
- Go to complete Gene record for KREMEN1
- Go to Variation Viewer for KREMEN1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ectodermal dysplasia 13, hair/tooth type | See labs |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. GeneReviews: Not available |
Genomic context
- Location:
- 22q12.1
- Sequence:
- Chromosome: 22; NC_000022.11 (29073035..29168333)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KREMEN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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