C16orf71
Understanding the Complexities of c16orf71
Description
c16orf71, also known as chromosome 16 open reading frame 71, is a gene located on the human chromosome 16. It encodes a protein that plays various essential roles in cellular function. c16orf71 is involved in RNA splicing, DNA repair, and transcriptional regulation.
Associated Diseases
Mutations in the c16orf71 gene have been linked to several genetic disorders, including:
- Intellectual disability: Developmental delays, speech and language difficulties, and impaired social skills.
- Autism spectrum disorder: Social challenges, repetitive behaviors, and restricted interests.
- Microcephaly: An abnormally small head size and delayed brain development.
- Mendelian disease susceptibility: Increased risk for certain inherited conditions, such as cancer and neurodegenerative disorders.
Did you Know ?
Mutations in the c16orf71 gene are estimated to occur in approximately 1 in 50,000 individuals, making it a relatively rare genetic disorder.
