Sequence in raw or FASTA format:
DSG4 desmoglein 4 [Homo sapiens (human)]
|Entrez Gene ID||147409|
|Full Name||desmoglein 4|
|Synonyms||CDGF13, CDHF13, HYPT6, LAH|
|General protein information||
|Organism||Homo sapiens (human)|
|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, Sep 2009].|
Hypotrichosis, localized, autosomal recessive, 607903 (3)
|Homo sapiens (human)||DSG4||NP_817123.1|
|Pan troglodytes (chimpanzee)||DSG4||XP_003953318.1|
|Macaca mulatta (Rhesus monkey)||DSG4||XP_001102180.1|
|Canis lupus familiaris (dog)||DSG4||XP_005623044.1|
|Bos taurus (cattle)||DSG4||XP_002697734.1|
|Mus musculus (house mouse)||Dsg4||NP_853543.1|
|Rattus norvegicus (Norway rat)||Dsg4||NP_955784.1|
|Gallus gallus (chicken)||DSG4||XP_426082.4|
|Xenopus (Silurana) tropicalis (western clawed frog)||dsg4||XP_002934178.2|
|GO:0007156||homophilic cell adhesion||IEA|
|GO:0016337||single organismal cell-cell adhesion||IEA|
|GO:0030509||BMP signaling pathway||IEA|
|GO:0016021||integral component of membrane||IEA|
|GO:0005509||calcium ion binding||IEA|
What is the normal function of the DSG4 gene?
The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). This protein is found in specialized structures called desmosomes that are located in the membrane surrounding certain cells. Desmosomes help attach cells to one another and play a role in communication between cells. The DSG4 protein is found in cells in certain regions of hair follicles, including the inner compartment of the hair strand (shaft) known as the cortex. Hair growth occurs at the hair follicle when cells divide and the hair shaft is pushed upward and extends beyond the skin.
Desmosomes provide strength to the hair and are involved in signaling between neighboring cells within the hair shaft. The DSG4 protein may play a role in communicating the signals for cells to mature (differentiate) and form the hair shaft. In addition, the DSG4 protein is found in the upper layers of the skin where it provides strength and communicates signals for the skin cells to mature.
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