DVL1 dishevelled segment polarity protein 1

Gene ID: 1855, updated on 3-Apr-2024
Gene type: protein coding
Also known as: DVL; DRS2; DVL1L1; DVL1P1

Summary

DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal dominant Robinow syndrome 1 MedGen: C4551475OMIM: 180700GeneReviews: Autosomal Dominant Robinow Syndrome	See labs
Autosomal dominant Robinow syndrome 2 MedGen: C4225363OMIM: 616331GeneReviews: Autosomal Dominant Robinow Syndrome	See labs

Genomic context

Location:: 1p36.33

Sequence:: Chromosome: 1; NC_000001.11 (1335278..1349418, complement)

Total number of exons:: 16

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DVL1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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