transmembrane protein 132E
The information on this page was automatically extracted from online scientific databases.
Covered on Genetics Home Reference:
From NCBI Gene:
- DEAFNESS, AUTOSOMAL RECESSIVE 99
Deafness, autosomal recessive, 99 (DFNB99): A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:618481]
TMEM132E is located in a region involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene and contiguous genes lying in its flanking regions, is observed in a patient with 17q11.2 microdeletion syndrome, a syndrome characterized by variable facial dysmorphism, mental retardation, developmental delay, and an excessive number of neurofibromas.