STRBP
The strbp Gene: A Key Player in Neurodevelopment and Disease
Description
The strbp gene, also known as the sterile alpha motif domain-containing protein 9 (SAMD9), is located on chromosome 7 in humans. It encodes a protein that is highly expressed in the developing brain, particularly during the formation of neural connections.
Strbp is involved in several cellular processes, including:
- Gene regulation: It modifies the structure of DNA to make specific genes more or less accessible for transcription.
- Protein synthesis: It binds to mRNA and helps it move through the cell for translation into proteins.
- Synaptic plasticity: It regulates the growth and strength of synapses, the junctions where neurons communicate.
Associated Diseases
Mutations in the strbp gene have been linked to a range of neurodevelopmental and psychiatric disorders, including:
- Intellectual disability: Strbp mutations are one of the most common genetic causes of intellectual disability.
- Autism spectrum disorder (ASD): Studies have shown an association between strbp mutations and certain types of ASD.
- Schizophrenia: Some schizophrenia patients have been found to have strbp mutations.
- Epilepsy: Mutations in strbp have been linked to rare forms of epilepsy known as Dravet and West syndromes.
- Neurodegenerative diseases: Strbp dysfunction may also contribute to the development of neurodegenerative diseases such as Alzheimer's disease.
Did you Know ?
According to a recent study in the American Journal of Human Genetics, mutations in the strbp gene are present in approximately 1% of individuals with intellectual disability. This makes it one of the most common genetic causes of this condition.
