PRPF4B
The PRPF4B Gene: Unraveling Its Role in Disease and Genetic Disorders
Description
The PRPF4B gene, located on chromosome 12q24.1, provides instructions for producing a protein called pre-mRNA processing factor 4B (PRPF4B). This protein plays a crucial role in the processing of pre-messenger RNA (pre-mRNA) into mature messenger RNA (mRNA) molecules. mRNA is the intermediate molecule that carries genetic information from DNA to the ribosomes, where proteins are synthesized.
Associated Diseases
Mutations in the PRPF4B gene have been linked to several genetic disorders, including:
- Retinitis pigmentosa: A group of inherited eye conditions characterized by progressive loss of vision due to damage to the light-sensitive cells in the retina.
- Deafness: Hearing loss caused by abnormalities in the development or function of the inner ear.
- Intellectual disability: A range of cognitive impairments that can affect learning, memory, reasoning, and social skills.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder characterized by social communication difficulties and repetitive behaviors.
- Mitochondrial disorders: Conditions that affect the mitochondria, the energy-producing units within cells.
Did you Know ?
Approximately 1 in 40,000 individuals worldwide are affected by retinitis pigmentosa, one of the most common diseases associated with PRPF4B mutations.
