Also published as: Adam Williams, Adrienne H Williams, Adrienne Williams, Alexandra F Williams, Alun G Williams, Amanda Williams, Andrew R Williams, Andrew Williams, Anthony Williams, Aurelia A Williams, B O Williams, B Williams, Belinda Williams, Bethany J Williams, Brenda P Williams, Caroline Williams, Carys Williams, Casey Williams, Cassin Kimmel Williams, Cathy Williams, Charles A Williams, Christine M Williams, Christopher K Williams, Christopher Williams, Claire M Williams, Corey L Williams, D Williams, David L Williams, David M Williams, David S Williams, Dylan M Williams, Erik A Williams, Evan G Williams, Frances M K Williams, Frances Williams, G R Williams, Gareth Williams, George Williams, Geraint T Williams, Gordon H Williams, Heather L Williams, Helen Williams, Holden C Williams, J Williams, Jaclyn Williams, Jesse W Williams, Jonathan S Williams, Jonathan Williams, Julie Williams, Juliet Williams, Justin D Williams, Karren R Williams, Katherine Williams, Katie M Williams, Kenneth R Williams, Kevin W Williams, Kurt J Williams, Kyle A Williams, Kyle B Williams, Lana Williams, Lauren Williams, Letitia L Williams, Marc S Williams, Mark T S Williams, Mark Williams, Megan E Williams, Michael J Williams, Michelle A Williams, Monique Williams, Monray Williams, Morgan A Williams, Noah R Williams, Noelle S Williams, Nori Williams, O Dale Williams, P Mickey Williams, Paul A Williams, Paul T Williams, Pete A Williams, Pierre-Marc Williams, R E Williams, R Williams, Richard J Williams, Robert W Williams, Robin S B Williams, Roger L Williams, Rory L Williams, Ruth E Williams, Ruth Williams, Sandra Williams, Sarah L Williams, Savannah Y Williams, Scott M Williams, Shardae Williams, Stephen R Williams, Steven G Williams, Suzannah A Williams, Tracy Ann Williams
The discs-large family is a collection of proteins that have a common structural organization and are thought to be involved in signal transduction and mediating protein-protein interactions at the cy Show more
The discs-large family is a collection of proteins that have a common structural organization and are thought to be involved in signal transduction and mediating protein-protein interactions at the cytoplasmic surface of the cell membrane. The defining member of this group of proteins is the gene product of the Drosophila lethal (1) discs large (dlg) 1 locus, which was originally identified by the analysis of recessive lethal mutants. Germline mutations in dlg result in loss of apical-basolateral polarity, disruption of normal cell-cell adhesion, and neoplastic overgrowth of the imaginal disc epithelium. We have isolated and characterized a novel human gene, DLG3, that encodes a new member of the discs-large family of proteins. The putative DLG3 gene product has a molecular weight of 66 kDa and contains a discs-large homologous region, a src oncogene homology motif 3, and a domain with homology to guanylate kinase. The DLG3 gene is located on chromosome 17, in the same segment, 17q12-q21, as the related gene, DLG2. The products of the DLG2 and DLG3 genes show 36% identity and 58% similarity to each other, and both show nearly 60% sequence similarity to p55, an erythroid phosphoprotein that is a component of the red cell membrane. We suggest that p55, DLG2, and DLG3 are closely related members of a gene family, whose protein products have a common structural organization and probably a similar function. Show less
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The bio Show more
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The biochemical basis of these diseases is unknown. Three main childhood forms are recognized: infantile (Santavuori-Haltia disease, CLN1), late infantile (Jansky-Bielschowsky disease, CLN2), and juvenile (Spielmeyer-Vogt-Sjögren, Batten disease, CLN3). The CLN1 gene has been mapped to chromosome 1p and CLN3 to chromosome 16p by linkage analysis (1, 2). The gene locus causing the classical late infantile form (CLN2) has not yet been mapped but has been excluded from both CLN1 and CLN3 loci (8). About 10% of NCL cases have atypical clinical features with most of these resembling the late infantile form. Show less
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inherit Show more
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: infantile (Haltia-Santavuori disease; MIM 256743), late infantile (Jansky-Bielschowsky disease; MIM 204500), and juvenile (Spielmeyer-Sjögren-Vogt, or Batten, disease; MIM 204200). The gene loci for the juvenile (CLN3) and infantile (CLN1) types have been mapped to human chromosomes 16p and 1p, respectively, by linkage analysis. Linkage analysis of 25 families segregating for late-infantile NCL has excluded these regions as the site of this disease locus (CLN2). The three childhood subtypes of NCL therefore arise from mutations at distinct loci. Show less