C16orf93
C16orf93: A Gene Linked to Multiple Disorders
Description
C16orf93 is a gene located on chromosome 16 in humans. It encodes a protein known as chromosome 16 open reading frame 93 (C16orf93). The function of this protein is not fully understood, but it is thought to play a role in cellular processes such as protein folding and cell signaling.
Associated Diseases
Mutations in the C16orf93 gene have been linked to several disorders, including:
- Spinocerebellar ataxia-22 (SCA22): A neurodegenerative disorder characterized by progressive loss of motor coordination and balance, as well as speech difficulties.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A rare mitochondrial disorder that causes seizures, strokes, and other neurological problems.
- Infantile encephalopathy and seizures: A severe neurological disorder that begins in infancy and leads to developmental delays, seizures, and other complications.
- Autism spectrum disorder (ASD): A complex neurodevelopmental condition that affects social interaction, communication, and behavior.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by SCA22, one of the disorders associated with mutations in the C16orf93 gene.
