GDF-3 active protein
Human GDF-3
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. [provided by RefSeq, Jul 2008]
Uniprot Description
Subunit structure: Homodimer or heterodimer
Potential. But, in contrast to other members of this family, cannot be disulfide-linked.
Subcellular location: Secreted
Probable.
Involvement in disease: Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.Note: The disease is caused by mutations affecting the gene represented in this entry.Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities: Belongs to the TGF-beta family.
Research Articles on GDF-3
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Product Notes
The GDF-3 gdf3 (Catalog #AAA691967) is an Active Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The Human GDF-3 reacts with Human and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: AAIPVPKLSC KNLCHRHQLF INFRDLGWHK WIIAPKGFMA NYCHGE CPFS LTISLNSSNY AFMQALMHAV DPEIPQAVCI PTKLSPISML Y QDNNDNVIL RHYEDMVVDE CGCG. It is sometimes possible for the material contained within the vial of "GDF-3, Active Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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