N4BP2L1
N4BP2L1: A Comprehensive Guide to Gene Function, Associated Diseases, and Recent Research
Description
N4BP2L1 (NEDD4 Binding Protein 2 Like 1) is a gene that encodes a protein involved in various cellular processes. The N4BP2L1 protein belongs to the NEDD4-binding protein family and plays a crucial role in ubiquitination, a process that tags proteins for degradation. This gene is located on chromosome 11q13.1 and spans approximately 139 kilobases.
Associated Diseases
Mutations in the N4BP2L1 gene have been linked to several genetic disorders, including:
- Cornelia de Lange Syndrome (CdLS): CdLS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and growth delays. Mutations in N4BP2L1 are believed to account for approximately 6-10% of CdLS cases.
- Autism Spectrum Disorder (ASD): N4BP2L1 has been implicated as a potential risk factor for ASD, although further research is needed to establish a causal relationship.
- Intellectual Disability: Mutations in N4BP2L1 can lead to non-syndromic intellectual disability, a condition characterized by significant cognitive impairments.
Did you Know ?
According to a study published in the American Journal of Human Genetics, approximately 0.04% of individuals in the general population carry a rare variant in the N4BP2L1 gene. This suggests that N4BP2L1 mutations are not uncommon and may contribute to a significant number of genetic disorders.
