e444 : adults limp paralysed except for head region thin Egl; larvae move well; progressive dystrophy posterior muscles fail to accumulate myofilaments. ES3 (adult) ME0. NA > 10 (e669amber (well suppressed) e998 (stronger phenotype) r290 etc.).
See also e444, e669, e998, e1012, e1421
[C.elegansII] e444 : adults limp, paralysed except for head region; thin; Egl; larvae move well; progressive dystrophy, body muscles fail to accumulate myofilaments. Class 1 allele. ES3 (adult) ME0. OA>10 (class 1): e669amb (well suppressed), e998 (stronger phenotype), su200, r290 etc. Also class 2 mutations: st549 (lethal, severe Pat, no organized myofilament lattice; probable null), st546, st560 etc. (all similar to st549). Also class 3 mutation: ut111 (lethal, arrest at two-fold; not paralysed; complements class 1 alleles. See also sup-38, smu. Cloned: multiple transcripts (4.0, 6.5, 8.0 kb)g enerated by alternative RNA processing; encode proteins related to perlecan (matrix heparansulfate proteoglycan)[Rogalski et al. 1993, 1995; DM]
The unc-52 gene encodes perlecan, a protein orthologous to human basement membrane-specific heparan sulfate proteoglycan core protein (HSPG2; OMIM:142461, which when mutated leads to Schwartz-Jampel syndrome or dyssegmental dysplasia); UNC-52 plays essential roles in muscle structure development and regulation of growth factor-like signaling pathways; UNC-52 is synthesized by the hypodermis and localizes to the extracellular matrix between hypodermis and muscle.
An extracellular matrix structural constituent. Involved in several processes, including hemidesmosome assembly; muscle cell cellular homeostasis; and muscle structure development. Located in basement membrane and striated muscle dense body. Expressed in alimentary muscle; body wall musculature; gonad; and pharyngeal-intestinal valve. Human ortholog(s) of this gene implicated in several diseases, including Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and hyperglycemia. Is an ortholog of human HSPG2 (heparan sulfate proteoglycan 2).