Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| DSG4 desmoglein 4 | LAH , HYPT6 , CDGF13 , CDHF13 | Homo sapiens | 16 | protein-coding | DSC3 , DSC2 , DSC1 , DSG3 , DSG1 , DSG2 | 607892 |
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]
Gene Loss events - DSG4 (4 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_PCBEKY | Balaenoptera acutorostrata | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | Cetacea | 10.1038/s41467-018-03667-1 |
| GL_SFERHV | Orcinus orca | Artiodactyla | Exon(s) deletion | Full | Cetacea | 10.1038/s41467-018-03667-1 |
| GL_WL1Y89 | Tursiops truncatus | Artiodactyla | Exon(s) deletion | Full | Cetacea | 10.1038/s41467-018-03667-1 |
| GL_YGAIR6 | Physeter catodon | Artiodactyla | Exon(s) deletion | Full | Cetacea | 10.1038/s41467-018-03667-1 |