InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DFNB59

Summary

InnateDB Protein

IDBP-76051.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DFNB59

Protein Name

deafness, autosomal recessive 59

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000364271

InnateDB Gene

IDBG-76049 (DFNB59)

Protein Structure

UniProt Annotation

Function

Essential in the activity of auditory pathway neurons.

Subcellular Localization

Disease Associations

Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]: 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. {ECO:0000269PubMed:16804542, ECO:0000269PubMed:22617256}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Protein Structure and Domains

PDB ID

InterPro

IPR007677 Gasdermin

PFAM

PF04598

PRINTS