C17orf74
c17orf74: An Enigmatic Gene with Intriguing Implication
Description
c17orf74, also known as FLJ11969, is a human gene located on chromosome 17 at position 17q24.2. It spans approximately 20,000 base pairs and encodes a protein of about 400 amino acids.
The function of the c17orf74 protein remains largely unknown. However, recent studies have shed light on its potential role in cellular processes, including protein processing, cell cycle regulation, and apoptosis.
Associated Diseases
Mutations in c17orf74 have been linked to several human diseases, including:
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Colorectal cancer: Mutations in c17orf74 have been identified in a subset of colorectal cancer patients. The exact mechanism by which these mutations contribute to cancer development is still being investigated.
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Intellectual disability: Mutations in c17orf74 have also been associated with non-syndromic intellectual disability, a condition characterized by significant limitations in cognitive abilities.
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Congenital heart defects: Studies have suggested a possible link between c17orf74 mutations and congenital heart defects, such as atrial septal defects and ventricular septal defects.
Did you Know ?
According to a recent study published in the journal Nature Genetics, mutations in c17orf74 are found in approximately 1% of colorectal cancer cases and 0.1% of individuals with intellectual disability.
