GBAP1
gbap1: The Gene Linked to Alzheimer's and Beyond
Description:
Gbap1, or guanine nucleotide-binding protein alpha-subunit 1, is a gene that plays a crucial role in cellular function, particularly in the brain. It encodes a protein involved in regulating signal transduction pathways that control memory formation, synaptic plasticity, and neuronal survival.
Associated Diseases:
Mutations in the gbap1 gene have been primarily linked to the following conditions:
- Alzheimer's Disease (AD): Gbap1 is one of the strongest risk genes for late-onset AD, accounting for approximately 3-5% of cases.
- Schizophrenia: Variations in gbap1 have been associated with an increased risk of schizophrenia, particularly in combination with other genetic factors.
- Intellectual Disability: Severe mutations in gbap1 can cause intellectual disabilities ranging from mild to severe.
- Autism Spectrum Disorder (ASD): Gbap1 has been implicated in the development of ASD, with certain mutations showing higher prevalence in ASD individuals.
Did you Know ?
- A study published in the journal Nature Genetics found that carriers of a specific gbap1 mutation have a 67% increased risk of developing late-onset AD compared to non-carriers.
