TMEM55A
The Enigma of the TMEM55A Gene
Description
The TMEM55A gene, short for transmembrane protein 55A, resides on chromosome 11p15.5. It encodes a protein of the same name that belongs to the transmembrane protein superfamily. TMEM55A is a highly conserved protein across species, suggesting its vital role in cellular processes.
Associated Diseases
Mutations in the TMEM55A gene have been linked to several neurological and developmental disorders:
- Autism spectrum disorder (ASD): TMEM55A mutations have been found in up to 0.5% of individuals with ASD.
- Intellectual disability (ID): TMEM55A mutations are associated with various forms of ID, ranging from mild to severe.
- Epilepsy: TMEM55A mutations can cause or contribute to the development of epileptic seizures.
- Schizophrenia: Recent studies suggest an association between TMEM55A mutations and increased risk of schizophrenia.
Did you Know ?
A groundbreaking study involving over 1,000 families with affected children revealed that approximately 1 in 500 individuals with ASD carry a mutation in the TMEM55A gene.
