InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Tmc1

Summary

InnateDB Protein

IDBP-152099.6

Last Modified

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

Gene Symbol

Tmc1

Protein Name

transmembrane channel-like gene family 1

Synonyms

4933416G09Rik; Beethoven; Bth; CWEA1; dn;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000040859

InnateDB Gene

IDBG-152097 (Tmc1)

Protein Structure

UniProt Annotation

Function

Probable ion channel required for the normal function of cochlear hair cells. {ECO:0000269PubMed:11850618}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Note=Defects in Tmc1 are the cause of the dominant deaf mutant Beethoven (BTH). Heterozygotes show progressive hair-cell degeneration from day 20 onwards, leading to severe depletion of inner hair cells and scattered loss of outer hair cells, and progressive loss of the Preyer reflex from around day 30. Homozygotes show almost complete degeneration of inner hair cells, and little or no Preyer reflex at any age.Note=Defects in Tmc1 are the cause of recessive deaf mutant dn. The dn mutant shows profound deafness with degeneration of the organ of Corti, stria vascularis, and occasionally the saccular macula, starting at about 10 days after birth.

Tissue Specificity

Detected in cochlear inner and outer hair cells and in neurosensory epithelia of the vestibular end organs. Also expressed in cortex, cerebellum, eye, colon, ovary and testis. {ECO:0000269PubMed:12812529}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005245	voltage-gated calcium channel activity

Biological Process

GO:0050910	detection of mechanical stimulus involved in sensory perception of sound
GO:0060005	vestibular reflex
GO:0060117	auditory receptor cell development
GO:0070588	calcium ion transmembrane transport