CHRNG - Acetylcholine receptor subunit gamma - human protein (Medical)
 
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Protein
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References

 
CHRNG »  Acetylcholine receptor subunit gamma
 
Gene name:  CHRNG
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. The disease is caused by mutations affecting the gene represented in this entry.  
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  • CuratedUniProtKB
Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]: Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Autosomal recessive multiple pterygium syndrome  2990  
Lethal multiple pterygium syndrome  33108  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 1146
MIM: 265000
MIM: 253290
PharmGKB: PA26499
Polymorphism databases
DMDM: 126302510
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.