C11orf49
C11orf49: A Gene of Interest in Human Health and Disease
Description
C11orf49, also known as chromosome 11 open reading frame 49, is a human gene located on chromosome 11. It encodes a protein of unknown function that is expressed in various tissues throughout the body.
Associated Diseases
Mutations in C11orf49 have been linked to several genetic disorders, including:
- Intellectual disability: C11orf49 mutations have been identified in individuals with intellectual disability, characterized by difficulties with learning, problem-solving, and social skills.
- Microcephaly: Mutations in C11orf49 can lead to microcephaly, a condition characterized by an abnormally small head size.
- Autism spectrum disorder (ASD): Studies have suggested an association between C11orf49 mutations and ASD, a developmental disorder that affects social skills and communication.
- Schizophrenia: Recent research has implicated C11orf49 in the genetic risk of schizophrenia, a severe mental illness characterized by hallucinations, delusions, and disordered thinking.
Did you Know ?
Approximately 1 in 1,000 individuals has a mutation in the C11orf49 gene that can lead to one of the associated diseases mentioned above.
