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 ربط بروتيني المكونات الخلوية • منطقة خارج الخلية • خارج خلوي العمليات الحيوية • regulation of apoptotic process • 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 • 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 receptor activity المصادر:Amigo / QuickGO
أورثولوج
الأنواع	الإنسان	الفأر
أنتريه	392255	242316
Ensembl	ENSG00000156466	ENSMUSG00000051279
يونيبروت	Q6KF10	P43028
RefSeq (مرسال ر.ن.ا.)	NM_001001557	NM_013526
RefSeq (بروتين)	NP_001001557	NP_038554
الموقع (UCSC	n/a	Chr 4: 9.84 – 9.86 Mb
بحث ببمد	[1]	[2]
ويكي بيانات
اعرض/عدّل إنسان اعرض/عدّل فأر

GDF6‏ (Growth differentiation factor 6) هوَ بروتين يُشَفر بواسطة جين GDF6 في الإنسان.

الوظيفة

هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.

الأهمية السريرية

هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.

قراءة متعمقة

• Chiquet BT, Hashmi SS, Henry R, et al. (2009). "Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate". Eur. J. Hum. Genet. 17 (2): 195–204. doi:10.1038/ejhg.2008.149. PMC 2874967. PMID 18716610.
• Mazerbourg S, Sangkuhl K, Luo CW, et al. (2005). "Identification of receptors and signaling pathways for orphan bone morphogenetic protein/growth differentiation factor ligands based on genomic analyses". J. Biol. Chem. 280 (37): 32122–32. doi:10.1074/jbc.M504629200. PMID 16049014.
• Storm EE, Huynh TV, Copeland NG, et al. (1994). "Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily". Nature. 368 (6472): 639–43. doi:10.1038/368639a0. PMID 8145850.
• Zhang X, Li S, Xiao X, et al. (2009). "Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma". Mol. Vis. 15: 2911–8. PMC 2802294. PMID 20057906.
• Erlacher L, McCartney J, Piek E, et al. (1998). "Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis". J. Bone Miner. Res. 13 (3): 383–92. doi:10.1359/jbmr.1998.13.3.383. PMID 9525338.
• Tassabehji M, Fang ZM, Hilton EN, et al. (2008). "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome". Hum. Mutat. 29 (8): 1017–27. doi:10.1002/humu.20741. PMID 18425797.
• Wolfman NM, Hattersley G, Cox K, et al. (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. 100 (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. 125 (8): 901–6. doi:10.1001/archotol.125.8.901. PMID 10448738.
• Asai-Coakwell M, French CR, Ye M, et al. (2009). "Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes". Hum. Mol. Genet. 18 (6): 1110–21. doi:10.1093/hmg/ddp008. PMID 19129173.
• Bobacz K, Gruber R, Soleiman A, et al. (2002). "Cartilage-derived morphogenetic protein-1 and -2 are endogenously expressed in healthy and osteoarthritic human articular chondrocytes and stimulate matrix synthesis". Osteoarthr. Cartil. 10 (5): 394–401. doi:10.1053/joca.2002.0522. PMID 12027540.
• Gajavelli S, Wood PM, Pennica D, et al. (2004). "BMP signaling initiates a neural crest differentiation program in embryonic rat CNS stem cells". Exp. Neurol. 188 (2): 205–23. doi:10.1016/j.expneurol.2004.03.026. PMID 15246821.
• 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. PMC 528928. PMID 15489334.
• Chang SC, Hoang B, Thomas JT, et al. (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. 269 (45): 28227–34. PMID 7961761.
• Reddi AH (1995). "Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix". Matrix Biol. 14 (8): 599–606. doi:10.1016/S0945-053X(05)80024-1. PMID 9057810.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. PMC 139241. PMID 12477932.
• Shen B, Bhargav D, Wei A, et al. (2009). "BMP-13 Emerges as a Potential Inhibitor of Bone Formation". Int. J. Biol. Sci. 5 (2): 192–200. doi:10.7150/ijbs.5.192. PMC 2646266. PMID 19240811.

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