C6orf48

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C6orf48: A Mysterious Gene Unveiling Emerging Insights

Description

C6orf48, also known as Chromosome 6 Open Reading Frame 48, is a gene located on the sixth chromosome in humans. It encodes a protein of 196 amino acids with an unknown function, making it a subject of ongoing research.

Associated Diseases

Although the exact role of C6orf48 is still being explored, studies have linked mutations in this gene to several rare disorders:

• Rubinstein-Taybi Syndrome (RTS): A genetic condition characterized by distinctive facial features, intellectual disability, and skeletal abnormalities.

• Pallister-Killian Syndrome (PKS): A similar disorder to RTS, but with more severe intellectual disability and features such as an enlarged tongue.

• Coffin-Siris Syndrome (CSS): A rare genetic condition affecting growth, intellectual development, and behavior.

Did you Know ?

A study published in the journal "Human Genetics" revealed that approximately 1 in 180,000 individuals worldwide carry a mutation in the C6orf48 gene.