SPATA31A5
## SPATA31A5 Gene: A Multifaceted Player in Health and Disease
Description:
The SPATA31A5 gene, located on the human chromosome 17, encodes a protein called Splicing Autosomal-Dominant Optic Atrophy-Like Disorder 31A5. This protein belongs to the SPATA family of proteins, which are characterized by their involvement in RNA splicing. RNA splicing is a crucial process that removes non-coding regions (introns) from RNA transcripts, leaving behind only the coding regions (exons). This process ensures that only the necessary information is translated into protein.
Associated Diseases:
Mutations in the SPATA31A5 gene have been linked to several human diseases, including:
- Splicing Autosomal-Dominant Optic Atrophy-Like Disorder (SADO): A rare genetic condition that affects vision. It is characterized by progressive loss of central vision due to degeneration of the optic nerve.
- Juvenile-Onset Open-Angle Glaucoma (JOAG): An eye disease that causes damage to the optic nerve and loss of vision.
- Colorectal cancer (CRC): A common type of cancer that begins in the colon or rectum. Studies have shown that certain variations in the SPATA31A5 gene are associated with an increased risk of CRC.
Did you Know ?
Approximately 1 in 500 individuals worldwide carry a mutation in the SPATA31A5 gene. These mutations can have varying degrees of severity, ranging from asymptomatic to causing significant health issues.
