rs267606776
This is a variant in the DSG4 gene that changes a proline to an arginine.
▶ClinVar annotation
About DSG4
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]
View all DSG4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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