GDF6

GDF6
المعرفات
الأسماء المستعارة	GDF6, BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1, growth differentiation factor 6, SYNS4
معرفات خارجية	الوراثة المندلية البشرية عبر الإنترنت 601147 MGI: MGI:95689 HomoloGene: 40883 GeneCards: 392255
علم الوجود الجيني
الوظيفة الجزيئية	• cytokine activity; • protein homodimerization activity; • transforming growth factor beta receptor binding; • growth factor activity; • ‏GO:0001948، ‏GO:0016582 ربط بروتيني;
المكونات الخلوية	• الفراغ خارج الخلية; • خارج خلوي;
العمليات الحيوية	• regulation of apoptotic process; • ‏GO:0097285 استماتة; • pathway-restricted SMAD protein phosphorylation; • retinal cell apoptotic process; • regulation of MAPK cascade; • cell development; • positive regulation of pathway-restricted SMAD protein phosphorylation; • BMP signaling pathway; • ‏GO:0060469، ‏GO:0009371 positive regulation of transcription, DNA-templated; • نمو متعدد الخلايا; • positive regulation of chondrocyte differentiation; • positive regulation of neuron differentiation; • activin receptor signaling pathway; • SMAD protein signal transduction; • positive regulation of p38MAPK cascade; • fat cell differentiation; • regulation of signaling receptor activity;
	المصادر:Amigo / QuickGO
أورثولوج
	Q6KF10
	P43028
	NM_001001557
	NM_013526
	NP_001001557
	NP_038554
	ويكي بيانات
اعرض/عدّل إنسان	اعرض/عدّل فأر

GDF6‏ (Growth differentiation factor 6) هوَ بروتين يُشَفر بواسطة جين GDF6 في الإنسان.^[1]

الوظيفة عدل

الأهمية السريرية عدل

المراجع عدل

^ Davidson AJ، Postlethwait JH، Yan YL، Beier DR، van Doren C، Foernzler D، Celeste AJ، Crosier KE، Crosier PS (فبراير 1999). "Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily". Genome Res. ج. 9 ع. 2: 121–9. DOI:10.1101/gr.9.2.121. PMID:10022976.

قراءة متعمقة عدل

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Storm EE، Huynh TV، Copeland NG، وآخرون (1994). "Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily". Nature. ج. 368 ع. 6472: 639–43. DOI:10.1038/368639a0. PMID:8145850.
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Tassabehji M، Fang ZM، Hilton EN، وآخرون (2008). "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome". Hum. Mutat. ج. 29 ع. 8: 1017–27. DOI:10.1002/humu.20741. PMID:18425797.
Wolfman NM، Hattersley G، Cox K، وآخرون (1997). "Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family". J. Clin. Invest. ج. 100 ع. 2: 321–30. DOI:10.1172/JCI119537. PMC:508194. PMID:9218508.
Tomaski SM، Zalzal GH (1999). "In vitro regulation of expression of cartilage-derived morphogenetic proteins by growth hormone and insulinlike growth factor 1 in the bovine cricoid chondrocyte". Arch. Otolaryngol. Head Neck Surg. ج. 125 ع. 8: 901–6. DOI:10.1001/archotol.125.8.901. PMID:10448738.
Asai-Coakwell M، French CR، Ye M، وآخرون (2009). "Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes". Hum. Mol. Genet. ج. 18 ع. 6: 1110–21. DOI:10.1093/hmg/ddp008. PMID:19129173.
Bobacz K، Gruber R، Soleiman A، وآخرون (2002). "Cartilage-derived morphogenetic protein-1 and -2 are endogenously expressed in healthy and osteoarthritic human articular chondrocytes and stimulate matrix synthesis". Osteoarthr. Cartil. ج. 10 ع. 5: 394–401. DOI:10.1053/joca.2002.0522. PMID:12027540.
Gajavelli S، Wood PM، Pennica D، وآخرون (2004). "BMP signaling initiates a neural crest differentiation program in embryonic rat CNS stem cells". Exp. Neurol. ج. 188 ع. 2: 205–23. DOI:10.1016/j.expneurol.2004.03.026. PMID:15246821.
Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
Chang SC، Hoang B، Thomas JT، وآخرون (1994). "Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development". J. Biol. Chem. ج. 269 ع. 45: 28227–34. PMID:7961761.
Reddi AH (1995). "Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix". Matrix Biol. ج. 14 ع. 8: 599–606. DOI:10.1016/S0945-053X(05)80024-1. PMID:9057810.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Shen B، Bhargav D، Wei A، وآخرون (2009). "BMP-13 Emerges as a Potential Inhibitor of Bone Formation". Int. J. Biol. Sci. ج. 5 ع. 2: 192–200. DOI:10.7150/ijbs.5.192. PMC:2646266. PMID:19240811.

هذه بذرة مقالة عن جين على كروموسوم 8 بحاجة للتوسيع. فضلًا شارك في تحريرها.

[pmid10022976-1] Davidson AJ، Postlethwait JH، Yan YL، Beier DR، van Doren C، Foernzler D، Celeste AJ، Crosier KE، Crosier PS (فبراير 1999). "Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily". Genome Res. ج. 9 ع. 2: 121–9. DOI:10.1101/gr.9.2.121. PMID:10022976.

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