FAM21A
Description
FAM21A (Family with Sequence Similarity 21A) is a gene that encodes a protein of the same name. It is a member of the FAM21 family of genes, which are involved in various cellular processes, including cell signaling, cell cycle regulation, and apoptosis.
Associated Diseases
Mutations in the FAM21A gene have been linked to several inherited genetic disorders, including:
- Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: A rare genetic disorder characterized by joint deformities, arthritis, hip dysplasia, and pericarditis.
- Microcephaly (microcephalic primordial dwarfism): A condition characterized by an abnormally small head and developmental delays.
- Spondyloepiphyseal dysplasia tarda (SEDT): A bone disorder that affects the spine and joints, causing pain, stiffness, and deformities.
- Intellectual disability: FAM21A mutations have been associated with intellectual disability in some individuals.
Did you Know ?
- Mutations in the FAM21A gene are estimated to occur in approximately 1 in 10,000 individuals.
