Myosin VI

Alternative Names

  • MYO6
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OMIM Number

600970

NCBI Gene ID

4646

Uniprot ID

Q9UM54

Length

170,299 bases

No. of Exons

40

No. of isoforms

6

Protein Name

Unconventional myosin-VI

Molecular Mass

149691 Da

Amino Acid Count

1294

Genomic Location

chr6:75,749,239-75,919,537

Gene Map Locus
6q14.1

Description

This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004999.4:c.2751dupUnited Arab EmiratesNC_000006.12:g.75890149dupUncertain SignificanceLikely PathogenicDeafness, Autosomal Recessive 37NG_009934.2:g.145957dup; NM_004999.4:c.2751dup; NP_004990.3:p.Gln918ThrfsTer24551348450523937
NM_004999.4:c.3019C>TUnited Arab EmiratesNC_000006.12:g.75892602C>TUncertain SignificanceUncertain SignificanceNG_009934.2:g.148410C>T; NM_004999.4:c.3019C>T; NP_004990.3:p.Arg1007Cys1431527271334339
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