Gene Symbol | DSG4 |
Entrez Gene ID | 147409 |
Full Name | desmoglein 4 |
Synonyms | CDGF13,CDHF13,HYPT6,LAH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypotrichosis 6, 607903 (3) |