C5orf56
C5orf56: A Comprehensive Guide
Description:
C5orf56 is a human gene located on chromosome 5. It encodes the protein C5orf56, which is involved in essential cellular processes such as cell division and RNA metabolism. The C5orf56 protein consists of 184 amino acids and is highly conserved across different species.
Associated Diseases:
Mutations in the C5orf56 gene have been linked to several rare genetic disorders, including:
- Microcephaly, intellectual disability, and developmental delay (MICDD): This disorder is characterized by an abnormally small head size (microcephaly) and significant intellectual disability. Mutations in C5orf56 are responsible for approximately 10% of MICDD cases.
- Seckel syndrome: This rare condition is characterized by severe growth failure, premature aging, and intellectual disability. Mutations in C5orf56 can cause Seckel syndrome in combination with other genetic factors.
- Cornelia de Lange syndrome (CdLS): CdLS is a complex developmental disorder that affects multiple body systems, including limbs, face, and internal organs. Mutations in C5orf56 have been identified in a small number of CdLS cases.
Did you Know ?
Research has shown that mutations in C5orf56 are more common in males than in females. In fact, approximately 80% of individuals with C5orf56-related MICDD are male. The reason for this gender bias is not yet fully understood.
