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ADP-ribosylation factors (ARFs) and ARF-like proteins (ARLs) are part of the ARF family within the RAS superfamily of regulatory GTPases. Guanine nucleotide binding proteins or GTPases are involved in a diverse spectrum of cellular activities, including regulating cell growth and signal transduction, organization of the cytoskeleton and regulating membrane trafficking along the exocytic and endocytic...
We report the isolation, genomic structure, chromosomal location, and expression pattern of the FEM1A gene, the human ortholog of the Caenorhabditis elegans fem-1 and mouse Fem1a genes. The coding sequence is 1851 bp and encodes a 617 amino acid protein. The human FEM1A protein has 65% identity with the mouse Fem1a protein and 34% identity with the C. elegans fem-1 protein, indicating conservation...
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (COMP; OMIM 600310). We report the identification of COMP mutations in an additional 14 families with...
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