MYO15A

This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]

Description

Myosin XVA

Tissue specificity

Tissue enriched (pituitary gland)

Predicted location

Intracellular

Protein family

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

Chromosome

17 (18108706 - 18179802)

Ensembl ID

ENSG00000091536  (ver. 103.38)

Orthologs

Mouse Myo15: ENSMUSG00000042678

UniProt

Q9UKN7

neXtProt

NX_Q9UKN7

Human splice variants
Mouse splice variants

Protein structure