C15orf27
c15orf27: An Enigma in the World of Genetics
Description
c15orf27, also known as chromosome 15 open reading frame 27, is a human gene located on the short arm of chromosome 15 (15p11.2). It encodes a protein of unknown function, consisting of 197 amino acids.
The precise role of c15orf27 in human biology remains shrouded in mystery. However, studies have suggested its involvement in various cellular processes, including cell growth, proliferation, and differentiation.
Associated Diseases
Mutations in c15orf27 have been linked to several rare genetic disorders, including:
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Intellectual disability: Mutations in c15orf27 have been identified in individuals with intellectual disability, characterized by difficulties in cognitive abilities, social interactions, and adaptive behaviors.
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Congenital diaphragmatic hernia: This birth defect occurs when an opening in the diaphragm fails to close properly, allowing abdominal organs to move into the chest cavity. Mutations in c15orf27 have been associated with an increased risk of congenital diaphragmatic hernia.
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Craniosynostosis: This condition involves the premature fusion of skull bones, leading to abnormal head shape and potential complications. Mutations in c15orf27 have been implicated in certain types of craniosynostosis.
Did you Know ?
Approximately 1 in every 50,000 individuals is estimated to carry a mutation in c15orf27. This suggests that the gene plays a significant role in human development and health.
