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- Table of Contents
Facts about Taperin.
Mouse | |
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Gene Name: | Tprn |
Uniprot: | A2AI08 |
Entrez: | 97031 |
Belongs to: |
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taperin family |
Taperin
Mass (kDA):
80.089 kDA
Mouse | |
---|---|
Location: | 2|2 A3 |
Sequence: | 2; |
Expressed in the sensory epithelia of the organ of Corti and vestibular end organs and, to a lesser extent, in Reisner's membrane and the spiral ligament (at protein level). At postnatal day 2, expression is detected in cochlea, liver, brain, kidney, heart and lung.
PMID: 20170899 by Rehman A.U., et al. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
PMID: 20170898 by Li Y., et al. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.