DCHS2

Chr 4

dachsous cadherin-related 2

Also known as: CDH27, CDHJ, CDHR7, PCDH23, PCDHJ

NCBI Gene: 54798 ENSG00000197410 UniProt: Q6V1P9 OMIM: 612486

This gene encodes a large calcium-dependent cell-adhesion protein containing multiple cadherin domains that functions in cell adhesion. Mutations cause Van Maldergem syndrome, a rare autosomal recessive disorder characterized by intellectual disability, distinctive facial features, and limb malformations. The gene shows no significant constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer's disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.02

LOEUF

Multiple*

Mechanism· predicted