InnateDB Protein
|
IDBP-293486.5
|
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
|
ENSP00000386647
|
InnateDB Gene
|
IDBG-76049 (DFNB59)
|
Protein Structure
|
|
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 |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007677
Gasdermin
|
PFAM |
PF04598
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q0ZLH3
|
PhosphoSite |
PhosphoSite-Q0ZLH3
|
TrEMBL |
A0PK15
|
UniProt Splice Variant |
|
Entrez Gene |
494513
|
UniGene |
Hs.87734
|
RefSeq |
NP_001036167
|
HUGO |
HGNC:29502
|
OMIM |
610219
|
CCDS |
CCDS42787
|
HPRD |
|
IMGT |
|
EMBL |
BC127902
BC127903
BC146938
CH471058
DQ365827
|
GenPept |
AAI27903
AAI27904
AAI46939
ABC94894
EAX11033
|
|
|