DFNB59 gene

deafness, autosomal recessive 59

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]

From UniProt:

Essential in the activity of auditory pathway neurons.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 59

From UniProt:

Deafness, autosomal recessive, 59 (DFNB59): A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. [MIM:610220]

Cytogenetic Location: 2q31.2, which is the long (q) arm of chromosome 2 at position 31.2

Molecular Location: base pairs 178,450,592 to 178,461,390 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q31.2, which is the long (q) arm of chromosome 2 at position 31.2