C7orf72

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c7orf72: A Gene of Intrigue in Neurodegenerative Diseases

Description:

c7orf72, also known as Chromosome 7 Open Reading Frame 72, is a mysterious gene located on the short arm of chromosome 7. It encodes a protein of unknown function, but its role in certain neurodegenerative diseases has sparked significant research interest.

Associated Diseases:

c7orf72 has been linked to:

• Amyotrophic Lateral Sclerosis (ALS): Aprogressive neurodegenerative disease characterized by muscle weakness and paralysis.
• Frontotemporal Dementia (FTD): A group of disorders causing progressive degeneration of the frontal and temporal lobes of the brain, leading to cognitive and behavioural changes.

Did you Know ?

• Approximately 20% of familial ALS and FTD cases are caused by expansions in the GGGGCC nucleotide repeat within the c7orf72 gene.