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Rabbit Anti-GDF3/FITC Conjugated antibody
background:
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]
Subunit:
Homodimer or heterodimer (Potential). But, in contrast to other members of this family, cannot be disulfide-linked.
Subcellular Location:
Secreted
DISEASE:
Defects in GDF3 are the cause of Klippel-Feil syndrome type 3 (KFS3) [MIM:613702]; also called Klippel-Feil syndrome autosomal dominant 3. KFS3 is 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.
Defects in GDF3 are the cause of microphthalmia isolated with coloboma type 6 (MCOPCB6) [MIM:613703]; also called isolated colobomatous microphthalmia 6. MCOPCB6 is 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, cataract and other abnormalities like cataract 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).
Defects in GDF3 are a cause of microphthalmia isolated type 7 (MCOP7) [MIM:613704]. MCOP7 is 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, cataract and other abnormalities like cataract may also be present.
Similarity:
Belongs to the TGF-beta family.
Database links:
Entrez Gene: 9573 Human
Entrez Gene: 14562 Mouse
Entrez Gene: 500311 Rat
Omim: 606522 Human
SwissProt: Q9NR23 Human
SwissProt: Q07104 Mouse
SwissProt: A2SY89 Rat
Unigene: 86232 Human
Unigene: 299742 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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