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Desmoglein 4
Identifiers
Symbols DSG4; CDGF13; CDHF13; LAH
External IDs OMIM607892 MGI2661061 HomoloGene65341 GeneCards: DSG4 Gene
Orthologs
Species Human Mouse
Entrez 147409 16769
Ensembl ENSG00000175065 ENSMUSG00000001804
UniProt Q86SJ6 Q2VPD0
RefSeq (mRNA) NM_177986 NM_181564
RefSeq (protein) NP_817123 NP_853543
Location (UCSC) Chr 18:
27.21 - 27.25 Mb
Chr 18:
20.58 - 20.61 Mb
PubMed search [1] [2]

Desmoglein-4 is a protein that in humans is encoded by the DSG4 gene.[1][2]

References

  1. ^ 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.  
  2. ^ "Entrez Gene: DSG4 desmoglein 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=147409.  

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.  
  • 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. 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.  
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