FAM41C
fam41c: An In-Depth Exploration
Description
FAM41C (Family with Sequence Similarity 41C) is a protein-coding gene located on chromosome 19p13.11. It spans approximately 32 kilobases and encodes a protein of 454 amino acids known as FAM41C. The FAM41C protein is characterized by its N-terminal transmembrane domain and C-terminal cytoplasmic domain.
Associated Diseases
FAM41C mutations have been implicated in several inherited disorders, including:
- Cerebral Palsy: FAM41C mutations are associated with a specific type of cerebral palsy known as spastic diplegia, which is characterized by muscle stiffness and difficulty walking.
- Intellectual Disability: Mutations in FAM41C can lead to intellectual disability ranging from mild to severe.
- Autistic Spectrum Disorder (ASD): Some FAM41C mutations have been linked to an increased risk of ASD.
- Microcephaly: FAM41C mutations have been found in individuals with microcephaly, a condition characterized by an abnormally small head size.
- Epilepsy: FAM41C mutations can also increase the risk of developing epilepsy.
Did you Know ?
According to a study published in the journal Nature Genetics, mutations in FAM41C are responsible for approximately 1% of cases of spastic diplegia.
