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Myosin-IIIa

From Wikipedia, the free encyclopedia
MYO3A
Identifiers
AliasesMYO3A, myosin IIIA, DFNB30
External IDsOMIM: 606808; MGI: 2183924; HomoloGene: 49486; GeneCards: MYO3A; OMA:MYO3A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017433
NM_001368265

NM_148413

RefSeq (protein)

NP_059129
NP_001355194

n/a

Location (UCSC)Chr 10: 25.93 – 26.21 MbChr 2: 22.23 – 22.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000095777Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025716Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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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