DSG4
Gene name: desmoglein 4OMIM ID: 607892
Chromosome location: 18q12.1
Mutations
| Disease/Phenotype | Hypotrichosis 6 |
|---|---|
| Reference transcript | NM_001134453.1 |
| DNA Change | c.865C>T |
| A.A. Change | p.Arg289Stop |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E.An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6. |