MYO7A

This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Description

Myosin VIIA

Tissue specificity

Tissue enhanced (adrenal gland, choroid plexus)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

11 (77128246 - 77215241)

Ensembl ID

ENSG00000137474  (ver. 103.38)

Orthologs

Mouse Myo7a: ENSMUSG00000030761

UniProt

Q13402

neXtProt

NX_Q13402

Human splice variants
Mouse splice variants

Protein structure