e698 : degenerate head bent dorsally or ventrally penetrance 50%; generally poor growth; adult male tail invariably thin fan and rays reduced in size. ES3/1 ME0. NA1.
See also e698
[C.elegansII] e698 : degenerate head, bent dorsally or ventrally; penetrance 50%; generally poor growth; adult male tail invariably thin fan and rays reduced in size; Mua (defective muscle attachment). ES3/1 ME0. NA1. [Hodgkin 1974; NJ]
vab-10 encodes, by alternative splicing, two spectraplakins (VAB-10A and VAB-10B) that are jointly required for mechanical resilience of the epidermis under strain by the contraction of actin microfilaments mechanically linked to fibrous organelles (FOs); VAB-10A/B are, accordingly, required for elongation during embryonic morphogenesis; VAB-10A has C-terminal plectin repeats while VAB-10B has spectrin repeats; VAB-10A is required to keep the epidermis and extracellular matrix attached via FOs, while VAB-10B is required to keep the apical and basal epidermal plasma membranes connected during morphogenesis; vab-10a and vab-10b mutations complement one another; vab-10 is orthologous to human BPAG1 (dystonin or MACF2, OMIM:113810, encoding an autoantigen of bullous pemphigoid blistering disease) and dJ562N20.1 (MACF1), and to Drosophila SHORT STOP.
Predicted to enable actin filament binding activity and structural molecule activity. Involved in epidermis morphogenesis. Located in apical plasma membrane; basal plasma membrane; and hemidesmosome. Expressed in several structures, including gonad; intestinal lumen; nerve ring; pharynx; and vulval cell. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex; hereditary sensory and autonomic neuropathy type 6; and lissencephaly 9 with complex brainstem malformation. Is an ortholog of human DST (dystonin).