LYRM7
Description
LYRM7 (Lysosomal Receptor Membrane Protein 7) is a gene that encodes a protein involved in the regulation of lysosome function, particularly in the central nervous system. The LYRM7 protein plays a crucial role in the sorting and trafficking of proteins within lysosomes, organelles responsible for the degradation of cellular waste. Mutations in LYRM7 can disrupt these processes, leading to the accumulation of harmful substances and potentially contributing to various neurodevelopmental and neurological disorders.
Associated Diseases
- Intellectual disability
- Autism spectrum disorder
- Epilepsy
- Cerebral palsy
- Spastic paraplegia
- Retinitis pigmentosa
Did you know?
Mutations in LYRM7 have been linked to a rare genetic disorder called "LYRM7-related neurodevelopmental disorder", characterized by intellectual disability, developmental delay, and behavioral problems.
