Myosin VIIA

Alternative Names

  • MYO7A
  • Myosin, Unconventional, Family VII, Member A
  • MYU7A
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OMIM Number




Uniprot ID



87,028 bases

No. of Exons


No. of isoforms


Protein Name

Unconventional Myosin-VIIA

Molecular Mass

254390 Da

Amino Acid Count


Genomic Location


Gene Map Locus


MYO7A is an unconventional myosin motor protein, expressed both in retinal photoreceptors and the retinal pigmented epithelium (RPE), especially in the apical part of the cell body and in the apical processes. In the photoreceptors, MYO7A is required for the normal transport of opsin through the ciliary plasma membrane to the outer segment, and, in the RPE, it functions in the movement of melanosomes and phagosomes.

MYO7A has been implicated in the spatiotemporal regulation of the visual retinoid cycle probably by mediating light-dependent translocation of the visual cycle enzyme, RPE65. Retinas lacking MYO7A contain less of RPE65, due to increased degradation. Besides, the enzyme that is present fails to undergo light-dependent translocation and the total isomerase activity is impaired.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000260.3:c.462C>AJordanNC_000011.10:g.77156083C>APathogenicUsher Syndrome Type ING_009086.1:g.32820C>A; NM_000260.3:c.462C>A; NP_000251.3:p.Cys154Ter
NM_000260.3:c.834C>ALebanonNC_000011.10:g.77157377C>APathogenicUsher Syndrome Type ING_009086.1:g.34114C>A; NM_000260.3:c.834C>A; NP_000251.3:p.Tyr278Ter
NM_000260.4:c.1952_1953insAGIraqchr11:77174772-77174773Likely PathogenicPathogenicDeafness, Autosomal Recessive 2NG_009086.2:g.51527_51528insAG; NM_000260.4:c.1952_1953insAG; NP_000251.3:p.Cys652fs11103351043165
NM_000260.4:c.2863G>AEgyptNC_000011.10:g.77181548G>ALikely PathogenicPathogenicUsher Syndrome Type ING_009086.2:g.58303G>A; NM_000260.4:c.2863G>A; NP_000251.3:p.Gly955Ser781988557177733
NM_000260.4:c.487G>ASaudi Arabiachr11:77156676PathogenicPathogenicUsher Syndrome Type ING_009086.2:g.33431G>A; NM_000260.4:c.487G>A; NP_000251.3:p.Gly163Arg1472566324553070
NM_000260.4:c.5660C>TPalestine; United Arab...NC_000011.10:g.77206120C>TLikely Pathogenic, PathogenicPathogenicDeafness, Autosomal Recessive 2NG_009086.2:g.82875C>T; NM_000260.4:c.5660C>T; NP_000251.3:p.Pro1887Leu19960618043295
NM_000260.4:c.578C>TSaudi Arabiachr11:77156767Likely PathogenicLikely PathogenicLeber Congenital Amaurosis 1NG_009086.2:g.33522C>T; NM_000260.4:c.578C>T; NP_000251.3:p.Thr193Ile1188616455500317
NM_000260.4:c.5835C>TLebanon; Saudi Arabiachr11:77207381Benign, Likely BenignDeafness, Autosomal Recessive 3NG_009086.2:g.84136C>T; NM_000260.4:c.5835C>T; NP_000251.3:p.Leu1945=11103347643302
NM_000260.4:c.6487G>APalestinechr11:77213908PathogenicPathogenicDeafness, Autosomal Recessive 2NG_009086.2:g.90663G>A; NM_000260.4:c.6487G>A; NP_000251.3:p.Gly2163Ser747656448402267

Other Reports


Ammar-Khodja et al. (2009) applied a systematic approach, involving haplotyping and genotyping, to depict the molecular etiology of non-syndromic deafness in 50 families and 9 sporadic cases from Algeria. One family with non-syndromic deafness carried a novel unclassified variant of unknown pathogenic effect in the MYO7A gene. Additionally, Ammar-Khodja et al. (2009) carried out a molecular diagnosis on two Usher type I families and found pathogenic mutations in the MYO7A and the PCDH15 genes.


Weil et al. (1997) identified a homozygous mutation in the MYO7A gene in affected members of a southern Tunisian family with autosomal recessive non-syndromic sensorineural deafness and retinal degeneration; consistent with Usher syndrome type IB.

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