Desmoglein-4
| Desmoglein 4 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | DSG4 ; CDGF13; CDHF13; HYPT6; LAH | ||||||||||||
| External IDs | OMIM: 607892 MGI: 2661061 HomoloGene: 65341 GeneCards: DSG4 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 147409 | 16769 | |||||||||||
| Ensembl | ENSG00000175065 | ENSMUSG00000001804 | |||||||||||
| UniProt | Q86SJ6 | Q7TMD7 | |||||||||||
| RefSeq (mRNA) | NM_001134453 | NM_181564 | |||||||||||
| RefSeq (protein) | NP_001127925 | NP_853543 | |||||||||||
| Location (UCSC) | Chr 18: 28.96 – 28.99 Mb | Chr 18: 20.44 – 20.47 Mb | |||||||||||
| PubMed search | |||||||||||||
Desmoglein-4 is a protein that in humans is encoded by the DSG4 gene.[1][2]
See also
- List of conditions caused by problems with junctional proteins
References
- ↑ Whittock NV, Bower C (Mar 2003). "Genetic evidence for a novel human desmosomal cadherin, desmoglein 4". J Invest Dermatol 120 (4): 523–30. doi:10.1046/j.1523-1747.2003.12113.x. PMID 12648213.
- ↑ "Entrez Gene: DSG4 desmoglein 4".
Further reading
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kljuic A; Bazzi H; Sundberg JP et al. (2003). "Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris". Cell 113 (2): 249–60. doi:10.1016/S0092-8674(03)00273-3. PMID 12705872.
- Rafiq MA; Ansar M; Mahmood S et al. (2004). "A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis". J. Invest. Dermatol. 123 (1): 247–8. doi:10.1111/j.0022-202X.2004.22715.x. PMID 15191570.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Nagasaka T; Nishifuji K; Ota T et al. (2004). "Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome". J. Clin. Invest. 114 (10): 1484–92. doi:10.1172/JCI200420480. PMC 525737. PMID 15545999.
- Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM (2006). "Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats". J. Investig. Dermatol. Symp. Proc. 10 (3): 222–4. doi:10.1111/j.1087-0024.2005.10110.x. PMID 16382669.
- Bazzi H; Getz A; Mahoney MG et al. (2006). "Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle". Differentiation 74 (2–3): 129–40. doi:10.1111/j.1432-0436.2006.00061.x. PMID 16533311.
- Wajid M; Bazzi H; Rockey J et al. (2007). "Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family". J. Invest. Dermatol. 127 (7): 1779–82. doi:10.1038/sj.jid.5700791. PMID 17392831.
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