Corneodesmosina

A corneodesmosina é unha proteína que nos humanos está codificada no xene CDSN.

CDSN
Estruturas dispoñibles
PDB	Buscar ortólogos: PDBe, RCSB
Identificadores
Nomenclatura	Outros nomes CDSN, D6S586E, HTSS, HTSS1, HYPT2, PSS, PSS1, corneodesmosina, S
Símbolo	CDSN (HGNC: 1802)
Identificadores externos	OMIM: 602593 HomoloGene: 48005 EBI: CDSN GeneCards: Xene CDSN UniProt: CDSN
Locus	Cr. 6 p21.33
Ontoloxía Xénica Referencias: AmiGO / QuickGO
Padrón de expresión de ARNm
Máis información
Ortólogos
Especies	Humano Rato
Entrez	1041 n/a
Ensembl	Véxase HS n/a
UniProt	Q15517 n/a
RefSeq (ARNm)	NM_001264 n/a
RefSeq (proteína) NCBI	NP_001255 n/a
Localización (UCSC)	Cr. 6: 31.12 – 31.12 Mb n/a
PubMed (Busca)	1041

Este xene codifica unha proteína que se atopa nos corneodesmosomas, que se localizan na epiderme humana e noutros epitelios cornificados escamosos. Durante a matuduración das capas cornificadas, a proteína sofre unha serie de clivaxes, que se pensa que son necesarios para que se produza a descamación da pel. O xene está localizado na rexión do cromosoma 6 correspondente ao complexo maior de histocompatibilidade (MHC) de clase I.

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Véxase tamén

Outros artigos

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Bibliografía

• Toribio J, Quiñones PA (1975). "Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance.". Br. J. Dermatol. 91 (6): 687–96. PMID 4141628. doi:10.1111/j.1365-2133.1974.tb12455.x. 
• Lundström A, Serre G, Haftek M, Egelrud T (1995). "Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation.". Arch. Dermatol. Res. 286 (7): 369–75. PMID 7818278. doi:10.1007/BF00371795. 
• Guerrin M, Simon M, Montézin M, et al. (1998). "Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation.". J. Biol. Chem. 273 (35): 22640–7. PMID 9712893. doi:10.1074/jbc.273.35.22640. 
• Jenisch S, Koch S, Henseler T, et al. (2000). "Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris." (PDF). Tissue Antigens 54 (5): 439–49. PMID 10599883. doi:10.1034/j.1399-0039.1999.540501.x. hdl:2027.42/66173. 
• Guerrin M, Vincent C, Simon M, et al. (2001). "Identification of six novel polymorphisms in the human corneodesmosin gene.". Tissue Antigens 57 (1): 32–8. PMID 11169256. doi:10.1034/j.1399-0039.2001.057001032.x. 
• Simon M, Jonca N, Guerrin M, et al. (2001). "Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation.". J. Biol. Chem. 276 (23): 20292–9. PMID 11279026. doi:10.1074/jbc.M100201200. 
• Jonca N, Guerrin M, Hadjiolova K, et al. (2002). "Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties.". J. Biol. Chem. 277 (7): 5024–9. PMID 11739386. doi:10.1074/jbc.M108438200. 
• Hui J, Oka A, Tamiya G, et al. (2003). "Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.". Tissue Antigens 60 (1): 77–83. PMID 12366786. doi:10.1034/j.1399-0039.2002.600110.x. 
• Orrù S, Giuressi E, Casula M, et al. (2003). "Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).". Tissue Antigens 60 (4): 292–8. PMID 12472658. doi:10.1034/j.1399-0039.2002.600403.x. 
• 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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899. 
• Levy-Nissenbaum E, Betz RC, Frydman M, et al. (2003). "Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.". Nat. Genet. 34 (2): 151–3. PMID 12754508. doi:10.1038/ng1163. 
• Caubet C, Jonca N, Lopez F, et al. (2004). "Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain.". J. Invest. Dermatol. 122 (3): 747–54. PMID 15086562. doi:10.1111/j.0022-202X.2004.22331.x. 
• Caubet C, Jonca N, Brattsand M, et al. (2004). "Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7.". J. Invest. Dermatol. 122 (5): 1235–44. PMID 15140227. doi:10.1111/j.0022-202X.2004.22512.x. 
• Capon F, Allen MH, Ameen M, et al. (2005). "A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.". Hum. Mol. Genet. 13 (20): 2361–8. PMID 15333584. doi:10.1093/hmg/ddh273. 
• Yang T, Liang D, Koch PJ, et al. (2004). "Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice.". Genes Dev. 18 (19): 2354–8. PMC 522985. PMID 15466487. doi:10.1101/gad.1232104. 
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. PMID 16189514. doi:10.1038/nature04209. 
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. PMC 1356129. PMID 16344560. doi:10.1101/gr.4039406. 

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Este artigo é, polo de agora, só un bosquexo. Traballa nel para axudar a contribuír a que a Galipedia mellore e medre.

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