Transmembrane Channel-Like Protein 1

Alternative Names

  • TMC1
  • Transmembrane Cochlear-Expressed Gene 1
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OMIM Number

606706

NCBI Gene ID

117531

Uniprot ID

Q8TDI8

Length

316,684 bases

No. of Exons

25

No. of isoforms

1

Protein Name

Transmembrane Channel-Like Protein 1

Molecular Mass

87768 Da

Amino Acid Count

760

Genomic Location

chr9:72,521,608-72,838,291

Gene Map Locus
9q21.13

Description

The TMC1 gene encodes a transmembrane protein with voltage-gated calcium channel activity. The exact function of the gene is currently unknown. However, as it is specifically expressed in the cochlea, it is assumed to be required for the normal functioning of cochlear hair cells.
 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_138691.2:c.100C>TAlgeria; Iraq; Lebanon...NC_000009.12:g.72694578C>TPathogenicLikely Pathogenic, PathogenicDeafness, Autosomal Recessive 7NG_008213.1:g.177778C>T; NM_138691.2:c.100C>T; NP_619636.2:p.Arg34Ter1219080734103
NM_138691.2:c.1165C>TMoroccochr9:72789258PathogenicPathogenicDeafness, Autosomal Recessive 7NG_008213.1:g.272458C>T; NM_138691.2:c.1165C>T; NP_619636.2:p.Arg389Ter15100164247856
NM_138691.2:c.1210T>CMoroccoNC_000009.12:g.72789303T>CPathogenicDeafness, Autosomal Recessive 7NG_008213.1:g.272503T>C; NM_138691.2:c.1210T>C; NP_619636.2:p.Trp404Arg878853240242395
NM_138691.2:c.1810C>TMoroccoNC_000009.12:g.72820888C>TLikely PathogenicPathogenicDeafness, Autosomal Recessive 7NG_008213.1:g.304088C>T; NM_138691.2:c.1810C>T; NP_619636.2:p.Arg604Ter777777359242394
NM_138691.2:c.1939T>CMoroccochr9:72821017PathogenicPathogenicDeafness, Autosomal Recessive 7NG_008213.1:g.304217T>C; NM_138691.2:c.1939T>C; NP_619636.2:p.Ser647Pro138527651228408
NM_138691.3:c.596A>TUnited Arab EmiratesNC_000009.12:g.72751910A>TUncertain SignificanceLikely PathogenicNG_008213.1:g.235110A>T; NM_138691.3:c.596A>T; NP_619636.2:p.Asn199Ile756960425634812
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