MYO3A

GENE INFORMATION

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Gene name

MYO3A (HGNC Symbol)

Synonyms

DFNB30

Description

Myosin IIIA (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

10

Cytoband

p12.1

Chromosome location (bp)

25934267 - 26212527

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000095777 (version 78.38)

Entrez gene

53904

UniProt

Q8NEV4 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8NEV4

Antibodypedia

MYO3A antibodies
 

PROTEIN VIEW

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MYO3A-001
 
MYO3A-003
 
MYO3A-004
 
MYO3A-201
 
MYO3A-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MYO3A-001 ENSP00000265944
ENST00000265944
Q8NEV4
Show all »
Show » Show » 1616 186.2 No 0
MYO3A-003 ENSP00000365479
ENST00000376302
Q8NEV4
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Show » Show » 247 27.7 No 0
MYO3A-004 ENSP00000365478
ENST00000376301
B1ANA3
Show all »
Show » Show » 197 22.2 No 0
MYO3A-201 ENSP00000445909
ENST00000543632
F5H0U9
Show all »
Show » Show » 664 74.6 No 0
MYO3A-202 ENSP00000481939
ENST00000619592
Show » Show » 1615 186.1 No 0