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DSG4 desmoglein 4 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001134453 Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_177986 Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol DSG4
Entrez Gene ID 147409
Full Name desmoglein 4
Synonyms CDGF13, CDHF13, HYPT6, LAH
General protein information
Preferred Names
desmoglein-4
Names
desmoglein-4
CDH family member 13
cadherin family member 13
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, Sep 2009].
Disorder

MIM: 607892

Hypotrichosis, localized, autosomal recessive, 607903 (3)

mRNA Protein Product Sequence Price Select
NM_001134453, 197313786 NP_001127925, 197313787 desmoglein-4 isoform 1 preproprotein ORF Sequence $1500.00
NM_177986, 259155289 NP_817123, 29789445 desmoglein-4 isoform 2 preproprotein ORF Sequence $1500.00
Homo sapiens (human)DSG4NP_817123.1
Pan troglodytes (chimpanzee)DSG4XP_003953318.1
Macaca mulatta (Rhesus monkey)DSG4XP_001102180.1
Canis lupus familiaris (dog)DSG4XP_005623044.1
Bos taurus (cattle)DSG4XP_002697734.1
Mus musculus (house mouse)Dsg4NP_853543.1
Rattus norvegicus (Norway rat)Dsg4NP_955784.1
Gallus gallus (chicken)DSG4XP_426082.4
Xenopus (Silurana) tropicalis (western clawed frog)dsg4XP_002934178.2
Process
IDNameEvidence
GO:0007156homophilic cell adhesionIEA
GO:0016337single organismal cell-cell adhesionIEA
GO:0030216keratinocyte differentiationIEA
GO:0030509BMP signaling pathwayIEA
GO:0042640anagenIEA
Component
IDNameEvidence
GO:0005886plasma membraneIEA
GO:0016021integral component of membraneIEA
GO:0030057desmosomeIEA
Function
IDNameEvidence
GO:0005509calcium ion bindingIEA
GeneCards DSG4
UniProt Q86SJ6
Vega OTTHUMG00000131979
MIM 607892
Ensembl ENSG00000175065
HGNC 21307
HPRD 06387

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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