C9orf139
The Enigmatic Gene: c9orf139
Description
c9orf139, also known as FAM70A, is a gene located on chromosome 9 in humans. It encodes a protein that plays a crucial role in RNA processing, which is essential for gene expression. The protein is involved in splicing, a process that removes non-coding regions from RNA, creating mature messenger RNA (mRNA).
c9orf139 is highly conserved across species, indicating its significance in fundamental biological processes. It is expressed in various tissues, including the brain, heart, and muscles.
Associated Diseases
Mutations in c9orf139 have been linked to several neurological and developmental disorders, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects motor neurons. Mutations in c9orf139 are the most common genetic cause of familial ALS, accounting for approximately 6% of cases.
- Frontotemporal Dementia (FTD): FTD is a neurodegenerative disorder that affects the frontal and temporal lobes of the brain. It can lead to changes in behavior, language, and personality. Mutations in c9orf139 are found in a subset of FTD cases.
- Autism Spectrum Disorder (ASD): ASD is a complex neurodevelopmental disorder characterized by social and communication difficulties. Rare mutations in c9orf139 have been identified in individuals with ASD.
Did you Know ?
Approximately 1 in 100,000 people have a mutation in the c9orf139 gene that increases their risk of developing ALS or FTD. This mutation is called a hexanucleotide repeat expansion (HRE). The HRE consists of six nucleotides (GGGCCG) that are repeated multiple times in the c9orf139 gene. The number of repeats determines the risk and severity of the disease.
