C21orf2
c21orf2: Unveiling the Intriguing Enigma of Human Genetics
Description:
c21orf2 (chromosome 21 open reading frame 2) is a human gene located on chromosome 21. It encodes a protein of unknown function, but studies suggest its involvement in various cellular processes, including ribosome assembly, cell cycle regulation, and neural development. c21orf2 contains two protein-coding isoforms, isoform 1 and isoform 2, with slightly different biological roles.
Associated Diseases:
Mutations or variations in the c21orf2 gene have been implicated in several human diseases, including:
- Down Syndrome: Duplication or overexpression of c21orf2 is associated with intellectual disability, developmental delay, and distinctive physical features characteristic of Down syndrome.
- Autism Spectrum Disorder (ASD): Studies have shown that genetic variations in c21orf2 may increase the risk of developing ASD, particularly in individuals with a history of Down syndrome.
- Cancer: Alterations in c21orf2 expression have been observed in various types of cancer, such as leukemia, breast cancer, and colorectal cancer. However, the precise role of c21orf2 in cancer progression is still being investigated.
Did you Know ?
In individuals with Down syndrome, approximately 10-20% of cases are caused by a translocation where additional copies of chromosome 21 are attached to other chromosomes. This translocation often results in overexpression of c21orf2, contributing to the characteristic features of Down syndrome.
