Growth/differentiation factors (GDFs) are members of the TGF superfamily (1,2). Members of the TGF superfamily are involved in embryonic development and adult tissue homeostasis (1). GDF-1 expression is almost exclusively restricted to the central nervous system and mediates cell differentiation events during embryonic development (3). Neither GDF-3 (Vgr-2) nor GDF-9 contains the conserved cysteine residue which is found in most other TGF superfamily members. GDF-3 is detectable in bone marrow, spleen, thymus and adipose tissue, whereas GDF-9 has only been detected in ovary (4). GDF-5 (also designated CDMP-1) has been shown to induce activation of plasminogen activator, thereby inducing angiogenesis. It is predominantly expressed in long bones during fetal embryonic development and is involved in bone formation. (5). GDF-5 mutations have been identified in mice with the mutation brachypodism (bp), a mutation which affects the length and number of bones in limbs (6). GDF-6 and GDF-7 are closely related to GDF-5 (6). GDF-8 has been shown to be a negative regulator of skeletal muscle mass (1).
Function:
GDF6 (Growth/differentiation factor 6) is expressed in hypertrophic chondrocytes during embryonic development of long bones and is required for normal formation of bones and joints in the limbs, skull, and axial skeleton. It plays a key role in establishing boundaries between skeletal elements during development. The functional form of GDF6 is a disulfide-linked homodimer of two 120 amino acid polypeptide chains obtained by proteolytic processing of a biologically inactive precursor protein.
Subunit:
Homodimer; disulfide-linked
Subcellular Location:
Secreted
DISEASE:
Defects in GDF6 are the cause of Klippel-Feil syndrome type 1 (KFS1) [MIM:118100]. 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. Deafness is a well-known feature of KFS and may be of sensorineural, conductive, or mixed type.
Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3).
Defects in GDF6 are the cause of microphthalmia isolated type 4 (MCOP4) [MIM:613094]. 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.
SWISS:
Q6KF10
Gene ID:
392255
Database links:
Entrez Gene: 392255 Human
Entrez Gene: 242316 Mouse
Omim: 601147 Human
SwissProt: Q6KF10 Human
SwissProt: P43028 Mouse
Unigene: 492277 Human
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Sample:
U251(Human) Cell Lysate at 30 ug
Primary: Anti- GDF6 (SL11843R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 14 kD
Observed band size: 48 kD
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