C9orf47

c9orf47: A Mysterious Gene with Links to Neurodegenerative Diseases

Description

c9orf47 is a protein-coding gene located on chromosome 9 in humans. The function of this gene is not fully understood, but it is believed to play a role in RNA metabolism and gene expression. c9orf47 is highly conserved across species, indicating its importance in cellular processes.

Associated Diseases

Mutations in the c9orf47 gene have been linked to several neurodegenerative diseases, including:

  • Amyotrophic lateral sclerosis (ALS)
  • Frontotemporal dementia (FTD)
  • Parkinson's disease
  • Multiple sclerosis (MS)

Did you Know ?

Approximately 5% of ALS cases are caused by mutations in the c9orf47 gene, making it one of the most common genetic risk factors for this disease.


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