DSG4

Chr 18AR

desmoglein 4

Also known as: CDGF13, CDHF13, HYPT6, LAH

NCBI Gene: 147409 ENSG00000175065 UniProt: Q86SJ6 OMIM: 607892

DSG4 encodes desmoglein-4, a transmembrane component of desmosomes that mediates cell-cell adhesion in epithelial cells and coordinates the transition from proliferation to differentiation in hair follicle keratinocytes. Mutations cause autosomal recessive hypotrichosis characterized by impaired hair growth. The gene shows low constraint to loss-of-function variation (pLI near zero), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypotrichosis 6MIM #607903

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.82

LOEUF

LOF

Mechanism· G2P

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GeneReview available — DSG4