FAM71F1
FAM71F1: A Comprehensive Guide
Description
FAM71F1 (Family with Sequence Similarity 71 Member F1), also known as CRMP-2-binding protein, is a protein that plays a crucial role in neuronal development and function. It is primarily expressed in the central nervous system (CNS) and is involved in various cellular processes, including neurite outgrowth, synaptic plasticity, and memory formation.
Structure and Function:
FAM71F1 is a ~80 kDa protein composed of an N-terminal coiled-coil domain and a C-terminal PDZ-binding motif. The coiled-coil domain facilitates protein-protein interactions, while the PDZ-binding motif allows FAM71F1 to interact with other proteins containing PDZ domains. These interactions are essential for FAM71F1‘s role in neuronal development and function.
Associated Diseases
Mutations in FAM71F1 have been linked to several neurodevelopmental and neurodegenerative disorders, including:
- Intellectual Disability (ID)
- Autism Spectrum Disorder (ASD)
- Schizophrenia
- Parkinson‘s Disease
- Alzheimer‘s Disease
Did you Know ?
- A large-scale genomic study identified FAM71F1 as one of the most commonly mutated genes in individuals with intellectual disability. Mutations in FAM71F1 were found in approximately 1% of cases.
