UniProt ID: Q6IQ69 |
FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:25078621, PubMed:28681861, PubMed:28161523, PubMed:30016436). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of mymx (By similarity). {ECO:0000250|UniProtKB:Q9D1N4, ECO:0000269|PubMed:25078621, ECO:0000269|PubMed:28161523, ECO:0000269|PubMed:28681861, ECO:0000269|PubMed:30016436}. SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9D1N4}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes on the cell surface of myoblasts. {ECO:0000250|UniProtKB:Q9D1N4}. DEVELOPMENTAL STAGE: Specifically expressed in the developing somites, concomitant with muscle differentiation. {ECO:0000269|PubMed:25078621, ECO:0000269|PubMed:29078404}. DISRUPTION PHENOTYPE: Homozygous knockout animals are viable (PubMed:28681861). While, larval and early juvenile fish show no overt phenotype, adult animals are small and develop craniofacial deformities (PubMed:28681861, PubMed:30016436). Mutant embryos lack fast-twitch myoblast fusion at 24 hours post-fertilization (hpf) (PubMed:25078621, PubMed:28681861, PubMed:28161523, PubMed:30016436). No alteration in the organization of slow-twitch myofibers, that do not fuse (PubMed:28681861, PubMed:30016436). In adults, fast-twitch musculature shows variably-sized hypotrophic fibers with variable degrees of fatty infiltration compared to wild-type siblings (PubMed:28681861, PubMed:30016436). {ECO:0000269|PubMed:25078621, ECO:0000269|PubMed:28161523, ECO:0000269|PubMed:28681861, ECO:0000269|PubMed:30016436}. SIMILARITY: Belongs to the TMEM8 family. {ECO:0000305}. CAUTION: According to a report, morpholino knockdown in embryos is lethal (PubMed:25078621). Other publications report that morpholino knockdown animals are viable (PubMed:28681861, PubMed:28161523, PubMed:30016436). {ECO:0000269|PubMed:25078621, ECO:0000269|PubMed:28161523, ECO:0000269|PubMed:28681861, ECO:0000269|PubMed:30016436}. |
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