DSG4 desmoglein 4 [Homo sapiens (human)]
| Gene Symbol | DSG4 |
| Entrez Gene ID | 147409 |
| Full Name | desmoglein 4 |
| Synonyms | CDGF13, CDHF13, LAH |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
18 18q12.1 |
| Summary | This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in 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 potentially in other skin disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq]. |
| Disorder | MIM: 607892 Hypotrichosis, localized, autosomal recessive, 607903 (3) |
| mRNA | NM_177986, 259155289 |
| Protein | NP_817123, 29789445 |
| Product | desmoglein-4 isoform 2 preproprotein |
| RefSeq Status | REVIEWED |
| mRNA | NM_001134453, 197313786 |
| Protein | NP_001127925, 197313787 |
| Product | desmoglein-4 isoform 1 preproprotein |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | DSG4 | NP_001127925.1 |
| Canis lupus familiaris (dog) | DSG4 | XP_855418.1 |
| Bos taurus (cattle) | DSG4 | XP_617938.3 |
| Mus musculus (house mouse) | Dsg4 | NP_853543.1 |
| Rattus norvegicus (Norway rat) | Dsg4 | NP_955784.1 |
| ID | Name | Evidence |
| GO:0007155 | cell adhesion | IEA |
| GO:0007156 | homophilic cell adhesion | IEA |
Component
| ID | Name | Evidence |
| GO:0005886 | plasma membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
| GO:0030054 | cell junction | IEA |
| GO:0030057 | desmosome | IEA |
Function
| ID | Name | Evidence |
| GO:0005509 | calcium ion binding | IEA |
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