C3orf17
C3orf17: Exploring the Gene Linked to Developmental Disorders and Cancer
Description
C3orf17 (Chromosome 3 Open Reading Frame 17) is a gene located on chromosome 3 in humans. It encodes a protein that is involved in various cellular processes, including protein synthesis, gene regulation, and cell division.
C3orf17 is expressed in multiple tissues throughout the body, including the brain, heart, liver, and muscles. It has been found to play a crucial role in embryonic development, particularly in the growth and patterning of the central nervous system.
Associated Diseases
Mutations in C3orf17 have been linked to several developmental disorders and genetic syndromes, including:
- Joubert syndrome: A rare genetic disorder characterized by a distinctive hindbrain malformation, developmental delays, and intellectual disability.
- Microcephaly: A condition characterized by an unusually small head circumference, which can lead to developmental issues.
- Intellectual disability: A range of cognitive impairments that can affect learning, reasoning, and social functioning.
- Autism spectrum disorder (ASD): A complex neurodevelopmental disorder that affects communication, social interaction, and repetitive behaviors.
Mutations in C3orf17 have also been implicated in certain types of cancer, including:
- Glioblastoma: A highly aggressive brain tumor.
- Ovarian cancer: A cancer that forms in the ovaries.
- Thyroid cancer: A cancer that forms in the thyroid gland.
Did you Know ?
A study published in the journal "Nature Genetics" found that mutations in C3orf17 are present in approximately 1% of individuals with intellectual disability. This suggests that C3orf17 plays a significant role in normal cognitive development.
