The specific function of C9orf75 is not yet known. There are 3 isoforms produced by alternative splicing.
Subcellular Location:
Cell projection, stereocilium (By similarity). Note=Localized prominently at the taper regions of hair cell stereocilia (By similarity).
Tissue Specificity:
Expression is detected in fetal cochlea.
DISEASE:
Deafness, autosomal recessive, 79 (DFNB79) [MIM:613307]: A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the taperin family.
SWISS:
Q4KMQ1
Gene ID:
286262
Database links:
Entrez Gene: 286262 Human
SwissProt: Q4KMQ1 Human
SwissProt: A2AI08 Mouse
SwissProt: Q5XHX2 Rat
Unigene: 323445 Human
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