DSG4

From Wikipedia, the free encyclopedia

Desmoglein 4

Identifiers

DSG4; CDGF13; CDHF13; LAH

External IDs

OMIM: 607892 MGI: 2661061 HomoloGene: 65341

Gene ontology
Molecular Function:	• calcium ion binding • protein binding
Cellular Component:	• cytoskeleton • membrane • integral to membrane
Biological Process:	• cell adhesion • homophilic cell adhesion

Orthologs

Human

Mouse

Refseq

NM_177986 (mRNA)
NP_817123 (protein)

NM_181564 (mRNA)
NP_853543 (protein)

Location

Chr 18: 27.21 - 27.25 Mb

Chr 18: 20.58 - 20.61 Mb

Pubmed search

[1]

[2]

Desmoglein 4, also known as DSG4, is a human gene.^[1]

[edit] References

^ Entrez Gene: DSG4 desmoglein 4.

[edit] 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. PMID 12477932.
Whittock NV, Bower C (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.
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. 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. 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. 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.