- sul-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable sulfuric ester hydrolase activity. Human ortholog(s) of this gene implicated in mucopolysaccharidosis VI. Is an ortholog of human ARSI (arylsulfatase family member I) and ARSJ (arylsulfatase family member J).
- spe-15 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable actin filament binding activity and microfilament motor activity. Involved in organelle localization and spermatid development. Predicted to be located in actin cytoskeleton; endocytic vesicle; and plasma membrane. Predicted to be part of myosin complex. Expressed in primary spermatocyte. Human ortholog(s) of this gene implicated in auditory system disease (multiple) and reproductive organ cancer (multiple). Is an ortholog of human MYO6 (myosin VI).
- Col6a1 [Search on AGR]
Homo sapiens The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
- R193.2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to be located in membrane. Human ortholog(s) of this gene implicated in several diseases, including Bethlem myopathy; Ullrich congenital muscular dystrophy; artery disease (multiple); gastrointestinal system cancer (multiple); and inflammatory bowel disease (multiple). Is an ortholog of human COL6A3 (collagen type VI alpha 3 chain).
- col-141 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to be a structural constituent of cuticle. Predicted to be located in membrane. Predicted to be part of collagen trimer. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy. Is an ortholog of human COL6A2 (collagen type VI alpha 2 chain).
- pygl-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable glycogen phosphorylase activity and pyridoxal phosphate binding activity. Predicted to be involved in glycogen catabolic process. Predicted to be located in cytoplasm. Expressed in germ line. Human ortholog(s) of this gene implicated in glycogen storage disease V; glycogen storage disease VI; and lactic acidosis. Is an ortholog of human PYGM (glycogen phosphorylase, muscle associated).
- ipla-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable actin filament binding activity. Predicted to be involved in actin filament bundle assembly. Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in several diseases, including Duchenne muscular dystrophy; Parkinson's disease 14; dystonia 12; and neurodegeneration with brain iron accumulation (multiple). Is an ortholog of human PLA2G6 (phospholipase A2 group VI).