Tenascina X
(Redirección desde «TN-X»)
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| PDB 2cum | |
Tenascina XB
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| Identificadores | |
| Símbolo | TNBX |
| Símbolos alt. | EDS3; HXBL; TENX; TN-X; TNX; TNXB1; TNXB2; TNXBS; VUR8; XB; XBS |
| Entrez | 7148 |
| OMIM | |
| RefSeq | NP_061978 |
| UniProt | P22105 |
| Outros datos | |
| Locus | Cr. 6 :(32.04 – 32.12 Mb) |
A tenascina X ou tenascina XB é unha proteína que é membro da familia da tenascina. É unha glicoproteína que se expresa nos tecidos conxuntivos en zonas como a pel, articulacións e músculos. Nos humanos a tenascina X está codificada polo xene TNXB, situado no cromosoma 6.[1]
Xene editar
Este xene localízase na rexión do complexo maior de histocompatibilidade de clase III (MHC III) do cromosoma 6. A estrutura deste xene é pouco usual, xa que se solapa cos xenes CREBL1 e CYP21A2 nos seus extremos 5' e 3', respectivamente.[2]
Función editar
Este xene codifica un membro das proteínas tenascinas das glicoproteínas da matriz extracelular. As tenascinas teñen efectos antiadhesivos, opoñéndose á fibronectina, a cal é adhesiva. Esta proteína crese que funciona na maduración da matriz durante a curación de feridas.[2]
Importancia clínica editar
A deficiencia desta proteína causa un dos tipos da síndrome de Ehlers-Danlos, na que a densidade de coláxeno está reducida e as fibras elásticas están fragmentadas.[3]
Notas editar
- ↑ Tee MK, Thomson AA, Bristow J, Miller WL (July 1995). "Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X". Genomics 28 (2): 171–8. PMID 8530023. doi:10.1006/geno.1995.1128.
- ↑ 2,0 2,1 "Entrez Gene: tenascin XB".
- ↑ Zweers, MC; Schalkwijk, J; Van Kuppevelt, TH; Van Vlijmen-Willems, IM; Bergers, M; Lethias, C; Lamme, EN (2005). "Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components". Cell and tissue research 319 (2): 279–87. PMID 15558324. doi:10.1007/s00441-004-1011-6.
Véxase tamén editar
Bibliografía editar
- Goepel C (2008). "Differential elastin and tenascin immunolabeling in the uterosacral ligaments in postmenopausal women with and without pelvic organ prolapse.". Acta Histochem. 110 (3): 204–9. PMID 18155129. doi:10.1016/j.acthis.2007.10.014.
- Yuan Y, Nymoen DA, Stavnes HT; et al. (2009). "Tenascin-X is a novel diagnostic marker of malignant mesothelioma.". Am. J. Surg. Pathol. 33 (11): 1673–82. PMC 2783994. PMID 19738457. doi:10.1097/PAS.0b013e3181b6bde3.
- Egging D, van Vlijmen-Willems I, van Tongeren T; et al. (2007). "Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition.". Connect. Tissue Res. 48 (2): 93–8. PMID 17453911. doi:10.1080/03008200601166160.
- Egging DF, van Vlijmen-Willems I, Choi J; et al. (2008). "Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice.". Cell Tissue Res. 332 (3): 523–32. PMC 2386751. PMID 18335242. doi:10.1007/s00441-008-0591-y.
- Kato A, Endo T, Abiko S; et al. (2008). "Induction of truncated form of tenascin-X (XB-S) through dissociation of HDAC1 from SP-1/HDAC1 complex in response to hypoxic conditions.". Exp. Cell Res. 314 (14): 2661–73. PMID 18588874. doi:10.1016/j.yexcr.2008.05.019.
- Bristow J, Carey W, Egging D, Schalkwijk J (2005). "Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.". American Journal of Medical Genetics 139C (1): 24–30. PMID 16278880. doi:10.1002/ajmg.c.30071.
- Fellay J, Ge D, Shianna KV; et al. (2009). McCarthy, Mark I., ed. "Common genetic variation and the control of HIV-1 in humans.". PLoS Genet. 5 (12): e1000791. PMC 2791220. PMID 20041166. doi:10.1371/journal.pgen.1000791.
- Kamatani Y, Matsuda K, Ohishi T; et al. (2008). "Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population.". J. Hum. Genet. 53 (1): 64–73. PMID 18058064. doi:10.1007/s10038-007-0219-1.
- Valdes AM, Thomson G, (2009). "Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1.". Diabetes Obes Metab. 11. Suppl 1: 46–52. PMC 2755069. PMID 19143814. doi:10.1111/j.1463-1326.2008.01002.x.
- Yu CY (1998). "Molecular genetics of the human MHC complement gene cluster.". Exp. Clin. Immunogenet. 15 (4): 213–30. PMID 10072631. doi:10.1159/000019075.
- Endo T, Ariga H, Matsumoto K (2009). "Truncated form of tenascin-X, XB-S, interacts with mitotic motor kinesin Eg5.". Mol. Cell. Biochem. 320 (1-2): 53–66. PMID 18679583. doi:10.1007/s11010-008-9898-y.
- Sovio U, Bennett AJ, Millwood IY; et al. (2009). Gibson, Greg, ed. "Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.". PLoS Genet. 5 (3): e1000409. PMC 2646138. PMID 19266077. doi:10.1371/journal.pgen.1000409.
- Araújo VC, Furuse C, Cury PR; et al. (2008). "Tenascin and fibronectin expression in carcinoma ex pleomorphic adenoma.". Appl. Immunohistochem. Mol. Morphol. 16 (1): 48–53. PMID 18091320. doi:10.1097/PAI.0b013e31802eff1c.
- Gudbjartsson DF, Walters GB, Thorleifsson G; et al. (2008). "Many sequence variants affecting diversity of adult human height.". Nat. Genet. 40 (5): 609–15. PMID 18391951. doi:10.1038/ng.122.
- Barcellos LF, May SL, Ramsay PP; et al. (2009). Roopenian, Derry C., ed. "High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.". PLoS Genet. 5 (10): e1000696. PMC 2758598. PMID 19851445. doi:10.1371/journal.pgen.1000696.
- McKinnon E, Morahan G, Nolan D; et al. (2009). "Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach.". Diabetes Obes Metab 11 (Suppl 1): 92–100. PMC 2755510. PMID 19143821. doi:10.1111/j.1463-1326.2008.01009.x.
- Chapuis J, Hot D, Hansmannel F; et al. (2009). "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.". Mol. Psychiatry 14 (11): 1004–16. PMC 2860783. PMID 19204726. doi:10.1038/mp.2009.10.
- Vignal C, Bansal AT, Balding DJ; et al. (2009). "Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci.". Arthritis Rheum. 60 (1): 53–62. PMID 19116923. doi:10.1002/art.24138.
- Buysschaert ID, Grulois V, Eloy P; et al. (2010). "Genetic evidence for a role of IL33 in nasal polyposis.". Allergy 65 (5): 616–22. PMID 19860791. doi:10.1111/j.1398-9995.2009.02227.x.
- Gudbjartsson DF, Bjornsdottir US, Halapi E; et al. (2009). "Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.". Nat. Genet. 41 (3): 342–7. PMID 19198610. doi:10.1038/ng.323.