| Gooseberry | |||||||
|---|---|---|---|---|---|---|---|
&sq=Google&lang=en&file=File:Gooseberry_Protein_3D_Structure.png) Gooseberry Protein 3D Structure[1] | |||||||
| Identifiers | |||||||
| Organism | |||||||
| Symbol | gsb | ||||||
| Alt. symbols | gsb-d, gooseberry-distal | ||||||
| Entrez | 38005 | ||||||
| HomoloGene | 137820 | ||||||
| RefSeq (mRNA) | NM_079139.4 | ||||||
| RefSeq (Prot) | NP_523863.1 | ||||||
| UniProt | P09082 | ||||||
| Other data | |||||||
| Chromosome | 2R: 25.06 - 25.07 Mb | ||||||
| |||||||
Gooseberry (gsb) is a segment polarity gene located on chromosome 2 of the Drosophila (fruit fly) genome. Gooseberry is known for its interactions with key embryonic signaling pathways Wingless and Hedgehog.[2][3] The gene also has clinical significance, being linked to diseases such as Waardenburg Syndrome and rhabdomyosarcoma.[4][5][6][7]
- ^ "Protein gooseberry structure prediction". AlphaFold – via EMBL-EBI.
- ^ Nüsslein-Volhard C, Wieschaus E (October 1980). "Mutations affecting segment number and polarity in Drosophila". Nature. 287 (5785): 795–801. Bibcode:1980Natur.287..795N. doi:10.1038/287795a0. PMID 6776413.
- ^ Li X, Noll M (December 1993). "Role of the gooseberry gene in Drosophila embryos: maintenance of wingless expression by a wingless--gooseberry autoregulatory loop". The EMBO Journal. 12 (12): 4499–4509. doi:10.1002/j.1460-2075.1993.tb06139.x. PMC 413875. PMID 8223460.
- ^ Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, et al. (January 1993). "Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2". Nature Genetics. 3 (1): 26–30. doi:10.1038/ng0193-26. PMID 8490648.
- ^ Riuzzi F, Sorci G, Sagheddu R, Sidoni A, Alaggio R, Ninfo V, et al. (April 2014). "RAGE signaling deficiency in rhabdomyosarcoma cells causes upregulation of PAX7 and uncontrolled proliferation". Journal of Cell Science. 127 (Pt 8): 1699–1711. doi:10.1242/jcs.136259. PMID 24554430.
- ^ Toki S, Wakai S, Sekimizu M, Mori T, Ichikawa H, Kawai A, et al. (October 2018). "PAX7 immunohistochemical evaluation of Ewing sarcoma and other small round cell tumours". Histopathology. 73 (4): 645–652. doi:10.1111/his.13689. PMID 29920735.
- ^ Charville GW, Varma S, Forgó E, Dumont SN, Zambrano E, Trent JC, et al. (October 2016). "PAX7 Expression in Rhabdomyosarcoma, Related Soft Tissue Tumors, and Small Round Blue Cell Neoplasms". The American Journal of Surgical Pathology. 40 (10): 1305–1315. doi:10.1097/PAS.0000000000000717. PMID 27526298.