C7orf61
C7orf61: A Gene with Intriguing Roles in Health and Disease
Description
C7orf61, also known as Chromosome 7 Open Reading Frame 61, is a gene located on chromosome 7 in humans. It encodes a protein that is involved in several essential cellular processes, including protein translation and cell division.
The C7orf61 protein contains an N-terminal domain with a conserved RNA recognition motif and a C-terminal domain with a putative protein-protein interaction domain. This unique structural arrangement enables C7orf61 to interact with both RNA and protein molecules, suggesting a multifunctional role in cellular regulation.
Associated Diseases
C7orf61 has been linked to several diseases, including:
-
C7orf61 deficiency syndrome: This rare genetic disorder is caused by mutations in the C7orf61 gene. It manifests with developmental delays, intellectual disability, and distinctive facial features.
-
Macrocephaly with microcephaly: This condition is characterized by an abnormally large head size (macrocephaly) in infancy, followed by a period of head growth restriction (microcephaly) in childhood. Mutations in C7orf61 have been identified as a potential cause of this rare disorder.
-
Autism spectrum disorder: Studies have suggested an association between C7orf61 variations and increased risk for autism spectrum disorder. However, further research is needed to establish a definitive link.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide are affected by C7orf61 deficiency syndrome, making it an extremely rare condition. The majority of cases are caused by point mutations in the C7orf61 gene.
