C12orf42

C12orf42 is a human gene. The designation "C12orf42" indicates that the gene is located on chromosome 12, and "orf42" signifies that it was the 42nd open reading frame identified on that chromosome. An open reading frame is a sequence of DNA that has the potential to code for a protein.

As with many genes with the "orf" designation, C12orf42 was initially identified through genomic sequencing efforts and its precise function is still under investigation. Research suggests a potential role in neurodevelopment. Mutations in C12orf42 have been linked to Joubert syndrome and related disorders.

Joubert syndrome is a rare genetic disorder that affects the cerebellum and brainstem, leading to a range of neurological symptoms, including ataxia (lack of coordination), hypotonia (low muscle tone), and intellectual disability. The severity of Joubert syndrome can vary considerably between individuals.

Further research is ongoing to fully elucidate the function of the C12orf42 protein and its precise role in the development and pathogenesis of Joubert syndrome. Studies are also exploring potential therapeutic interventions for individuals with C12orf42-related disorders.