Genomic coordinate 9:72,521,608
Here I present: “Recessive Deafness Type-7“, Victor McKusick, Mendelian Inheritance in Man’, 1966.(TMC1) 家族性隱性耳聾。icd10=Z82.2
INTRODUCTION.
There is evidence that autosomal recessive deafness type-7 is caused by homozygous mutation in the TMC1 gene on cytogenetic location 9q21.13 and genomic coordinate 9:72,521,608.
Transmembrane channel like-1 (TMC1) is a protein encoded by the TMC1 gene that is crucial for hearing and balance. It forms the pore of mechanosensitive ion channels at the tips of hair cells in the inner ear, enabling the conversion of sound and motion into electrical signals (mechanotransduction). Mutations in the TMC1 gene are linked to various forms of hearing loss, including both progressive and congenital deafness.
