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Myosin IIIA
Identifiers
Symbols MYO3A ; DFNB30
External IDs OMIM606808 MGI2183924 HomoloGene49486 ChEMBL: 5546 GeneCards: MYO3A Gene
EC number 2.7.11.1
Orthologs
Species Human Mouse
Entrez 53904 667663
Ensembl ENSG00000095777 ENSMUSG00000025716
UniProt Q8NEV4 A2ASW0
RefSeq (mRNA) NM_017433 NM_148413
RefSeq (protein) NP_059129 NP_680779
Location (UCSC) Chr 10:
26.22 – 26.5 Mb
Chr 2:
22.23 – 22.62 Mb
PubMed search [1] [2]

Myosin IIIA is a protein that in humans is encoded by the MYO3A gene.[1][2]

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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: MYO3A myosin IIIA". 

Further reading[edit]

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