FUS - RNA-binding protein FUS - human protein (Medical)
 
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FUS »  RNA-binding protein FUS
 
Protein also known as:  Translocated in liposarcoma protein.
Gene name:  FUS
Family name: RRM TET
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Long     

 
 

Medical

 show evidences
Disease 
A chromosomal aberration involving FUS is found in a patient with malignant myxoid liposarcoma. Translocation t(12;16)(q13;p11) with DDIT3.  
  • CuratedUniProtKB
A chromosomal aberration involving FUS is a cause of acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with ERG.  
  • CuratedUniProtKB
Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. The disease may be caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving FUS is found in a patient with angiomatoid fibrous histiocytoma. Translocation t(12;16)(q13;p11.2) with ATF1 generates a chimeric FUS/ATF1 protein.  
  • CuratedUniProtKB
Amyotrophic lateral sclerosis 6 (ALS6) [MIM:608030]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. The disease is caused by mutations affecting the gene represented in this entry.  
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  • CuratedUniProtKB
Tremor, hereditary essential 4 (ETM4) [MIM:614782]: A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. The disease is caused by mutations affecting the gene represented in this entry.  
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  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Amyotrophic lateral sclerosis  803  
Frontotemporal dementia with motor neuron disease  275872  
Hereditary essential tremor  862  
Juvenile amyotrophic lateral sclerosis  300605  
Myxofibrosarcoma  79105  
Myxoid/round cell liposarcoma  99967  
 

Keywords

Disease 
Amyotrophic lateral sclerosis  definition   [KW-0036]
Disease mutation  definition   [KW-0225]
Neurodegeneration  definition   [KW-0523]
Proto-oncogene  definition   [KW-0656]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2521
GeneReviews: FUS
MIM: 614782
MIM: 608030
MIM: 612160
PharmGKB: PA28425
Polymorphism databases
DMDM: 544357
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.