SHCBP1L
The Fascinating World of SHCBP1L: A Gene with Diverse Roles and Implications
Description:
SHCBP1L, also known as SHC Binding Protein 1-Like, is a crucial gene that encodes a protein with multifaceted functions. It plays a pivotal role in various cellular processes, including signal transduction, cell growth, and apoptosis. SHCBP1L interacts with the SHC adaptor protein, which links growth factor receptors to downstream signaling pathways involved in cell proliferation and differentiation.
Associated Diseases:
Mutations in the SHCBP1L gene have been associated with a range of inherited disorders, including:
- Charcot-Marie-Tooth Disease (CMT): A group of inherited neurological disorders that affect the peripheral nerves, causing progressive muscle weakness and atrophy.
- Infantile-Onset Spinocerebellar Ataxia: A rare neurodegenerative condition characterized by difficulties with coordination, balance, and speech, typically presenting in early childhood.
- Growth Retardation and Intellectual Disability: Certain mutations in SHCBP1L have been linked to syndromes characterized by impaired growth and cognitive development.
Did you Know ?
Approximately one in every 10,000 individuals is estimated to have a mutation in the SHCBP1L gene. These mutations can either be inherited or occur spontaneously.
