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. This gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. Acts specifically as a negative regulator of skeletal muscle growth. [SUBUNIT] Homodimer; [TISSUE SPECIFICITY] Expressed specifically in developing and adult skeletal muscle. Weak expression in adipose tissue. Belongs to the TGF-beta family.
Function:
Acts specifically as a negative regulator of skeletal muscle growth.
Subunit:
Homodimer; disulfide-linked. Interacts with WFIKKN2, leading to inhibit its activity. Interacts with FST3.
Subcellular Location:
Secreted
Tissue Specificity:
Predominantly expressed in muscle. At hatching, expression is strongest in the skin epithelium, and is also found in the retina and brain. From day 28, expressed in skeletal muscle. In the adult, highest expression is seen in the gastrointestinal tract, brain, muscle, heart and testis. Also expressed in the adult pharynx, kidney, spleen, liver, gill, eyes, skin, swim bladder and ovary.
DISEASE:
Defects in MSTN are the cause of muscle hypertrophy (MSLHP) [MIM:614160]. MSLHP is a condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong.
Similarity:
Belongs to the TGF-beta family.
Database links:
Entrez Gene: 2660 Human
Entrez Gene: 17700 Mouse
Entrez Gene: 399534 Pig
Entrez Gene: 29152 Rat
Omim: 601788 Human
SwissProt: O14793 Human
SwissProt: O08689 Mouse
SwissProt: O35312 Rat
SwissProt: O18830 Sheep
Unigene: 41565 Human
Unigene: 3514 Mouse
Unigene: 4492 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
GDF-8又称MSTN,是转化生长因子超家族，也是近年来发现的一类重要的肌细胞生长调控因子，它通过抑制MyoD家族成员转录活性负向控制肌细胞的生长发育，它的表达量与肌肉重量的变化呈负相关。
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