myosin heavy chain 12; myosin-Va; Dilute myosin heavy chain, non-muscle; myosin-12; myoxin (MYO5A, MYH12)
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Function
- processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament involved in melanosome transport
- may also be required for some polarization process involved in dendrite formation
- may be a homodimer, which associates with multiple calmodulin or myosin light chains
- binds MLPH & MYRIP
Structure
- contains 1 dilute domain
- contains 6 IQ domains
- contains 1 myosin head-like domain
Alternative splicing
named isoforms=3
Expression
detected in melanocytes
Pathology
- defects in MYO5A are a cause of:
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9Y4I1.html
- ↑ MYO5Abase; Note: MYO5A mutation db http://bioinf.uta.fi/MYO5Abase/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO5A
- ↑ OMIM https://mirror.omim.org/entry/160777
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4644
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4644
- OMIM: https://mirror.omim.org/entry/160777
- OMIM: https://mirror.omim.org/entry/214450
- OMIM: https://mirror.omim.org/entry/256710
- OMIM: https://mirror.omim.org/entry/609227
- UniProt: http://www.uniprot.org/uniprot/Q9Y4I1.html