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DSG4
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes. Defects in DSG4 are the cause of hypotrichosis type 6 (HYPT6). A condition characterized by the presence of less than the normal amount of hair, involving mainly the scalp, chest, arms and legs. It is characterized by abnormal hair follicles and shafts, which are thin and atrophic. Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Cell adhesion; Membrane protein, integral |
| Chromosomal Location of Human Ortholog: 18 A2|18 11.35 cM |
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Cellular Component:
cell junction; cell-cell junction; desmosome; integral component of membrane; membrane; plasma membrane
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Molecular Function:
calcium ion binding; metal ion binding
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Biological Process:
BMP signaling pathway; cell adhesion; cell-cell adhesion; hair follicle development; homophilic cell adhesion via plasma membrane adhesion molecules; keratinocyte differentiation
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Reference #:
Q7TMD7
(UniProtKB)
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Alt. Names/Synonyms: CDHF13; desmoglein 4; Desmoglein-4; Dsg4; lah; lanceolate hair; MGC124398
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Gene Symbols: Dsg4
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Molecular weight:
114,449 Da
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Basal Isoelectric point:
4.58
Predict pI for various phosphorylation states
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