MYO3A

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MYO3A
Identifiers
Aliases MYO3A, DFNB30, myosin IIIA
External IDs MGI: 2183924 HomoloGene: 49486 GeneCards: MYO3A
Gene location (Human)
Chromosome 10 (human)
Chr. Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for MYO3A
Genomic location for MYO3A
Band 10p12.1 Start 25,934,071 bp[1]
End 26,212,536 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017433

NM_148413

RefSeq (protein)

NP_059129

n/a

Location (UCSC) Chr 10: 25.93 – 26.21 Mb Chr 2: 22.23 – 22.62 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Myosin IIIA is a protein that in humans is encoded by the MYO3A gene.[5][6]

The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000095777 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025716 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Dose AC, Burnside B (Sep 2000). "Cloning and chromosomal localization of a human class III myosin". Genomics. 67 (3): 333–42. doi:10.1006/geno.2000.6256. PMID 10936054.
  6. ^ a b "Entrez Gene: MYO3A myosin IIIA".

Further reading



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