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TMC1 transmembrane channel-like 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_138691 Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

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Gene Symbol TMC1
Entrez Gene ID 117531
Full Name transmembrane channel-like 1
Synonyms DFNA36, DFNB11, DFNB7
General protein information
Preferred Names
transmembrane channel-like protein 1
Names
transmembrane channel-like protein 1
transmembrane, cochlear expressed, 1
transmembrane cochlear-expressed protein 1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q21.12

Summary This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008].
Disorder

MIM: 606706

Deafness, autosomal recessive 7, 600974 (3); Deafness, autosomal

mRNA Protein Product Sequence Price Select
NM_138691, 21071069 NP_619636, 21071070 transmembrane channel-like protein 1 ORF Sequence $700.00
Homo sapiens (human)TMC1NP_619636.2
Pan troglodytes (chimpanzee)TMC1XP_528322.2
Macaca mulatta (Rhesus monkey)TMC1XP_001093188.2
Canis lupus familiaris (dog)TMC1XP_005616877.1
Bos taurus (cattle)TMC1XP_002689695.2
Mus musculus (house mouse)Tmc1NP_083229.1
Rattus norvegicus (Norway rat)Tmc1NP_001101991.1
Gallus gallus (chicken)TMC1NP_001006580.1
Danio rerio (zebrafish)tmc1XP_695621.4
Xenopus (Silurana) tropicalis (western clawed frog)tmc1XP_002935639.1
Process
IDNameEvidence
GO:0006811ion transportIEA
GO:0050910detection of mechanical stimulus involved in sensory perception of soundIEA
GO:0060005vestibular reflexIEA
GO:0060117auditory receptor cell developmentIEA
Component
IDNameEvidence
GO:0009897external side of plasma membraneIEA
GO:0016021integral component of membraneIEA
GO:0032426stereocilium bundle tipIEA
GeneCards TMC1
UniProt Q8TDI8
Vega OTTHUMG00000020014
MIM 606706
Ensembl ENSG00000165091
HGNC 16513
HPRD 05988

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TMC1 gene?

The TMC1 gene provides instructions for making a protein called transmembrane channel-like 1. This protein is found in the inner ear, but its function is not fully understood. Based on its location in the inner ear, the TMC1 protein probably plays a role in converting sound waves to nerve impulses, a critical process for normal hearing. Alternatively, the TMC1 protein may be involved in signalling processes that are important for the survival of cells in the inner ear.

Interactant

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