MYO6

MYO6

A gene on chromosome 6q13 which encodes a protein responsible for intracellular vesicle and organelle transport, in particular of the hair cell of the inner ear.

Molecular pathology
MYO6 mutations have been linked to hereditary non-syndromic hearing loss.
References in periodicals archive ?
Rather than being always on machines, Motors must often be specifically activated for distinct mechanical roles by partners.the melanchor project seeks to uncover how myosin vi (myo6) promotes two cell processes through specific interaction with partners that promote different myo6 dimerisation modes with unique mechanical properties.
Sayahi, "Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature," International Journal of Pediatric Otorhinolaryngology, vol.
MiR-143 has been proved to have an anti-cancer effect by targeting multiple genes related to cell proliferation, apoptosis and migration, such as Bcl-2 (13), MYO6 (14), ELK1 (15), and ERK5 (16).
CISD2 3 1 1 0 OTOGL 58 0 34 0 Watch list: low GC-can be problematic MYO6 34 0 27 0 Watch list: low GC-can be problematic GPR98 90 0 24 0 Watch list: low GC-can be problematic MYO3A 33 0 18 0 Watch list: low GC-can be problematic HSD17B4 26 0 13 0 Watch list: low GC-can be problematic PCDH15 39 0 12 0 Watch list: low GC-can be problematic RDX 14 0 10 0 Watch list: low GC-can be problematic SERPINB6 9 0 1 1 Watch list: high GC-can be problematic GIPC3 6 0 0 1 Watch list: high GC-can be problematic KCNQ1 17 0 0 1 Watch list: high GC-can be problematic P2RX2 10 0 0 1 Watch list: high GC-can be problematic TMIE 4 0 0 1 Watch list: high GC-can be problematic Table 3.
Myosin VI (Myo6), a member of the "unconventional" myosin classes, is an unusual member of the myosin superfamily in that its movement along actin filaments is towards the pointed (-) end of an actin filament, the opposite direction to myosins of other classes [5].
Myo6 can be alternatively spliced in two regions of its cargo binding domain, giving rise to either a small insert (9aa) (SI) and/or a large insert (up to 32aa) (LI) [10].
Most evidence supporting a role for Myo6 in endocytosis relates to CME: it has been shown to colocalise with clathrin, Dab2, and AP-2 in polarised cells [13-15]and with uncoated vesicles and GIPC1 in unpolarised cells [13, 16].
Given the importance of endocytosis in the uptake of lipoproteins by macrophages, it is possible that Myo6 may have a role in foam cell formation and thus play a part in atherogenesis.
Expression of Myo6 [19], Dab2 [20], and AP-2 [21]has been detected in murine macrophages and expression of GIPC in human peripheral blood monocytes [22], but, except for one report which found Myo6 mRNA in macrophages derived from the human monocyte cell line, THP-1 [23], no information is available on expression of these proteins in human macrophages.
Mutation of MYO6 are associated with recessive deafness DFNB37.
Similarly, using cotransfection of Prox1 and Atoh1 in cochlear prosensory cells, Prox1 was shown to inhibit Atoh1-induced expression of Myo6, a hair cell marker, in nonsensory cells [30].
Rzadzinska et al., "A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells," PLoS Genetics, vol.