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Publication : Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice.

First Author  Burwinkel B Year  1998
Journal  Genomics Volume  49
Issue  3 Pages  462-6
PubMed ID  9615234 Mgi Jnum  J:47933
Mgi Id  MGI:1206247 Doi  10.1006/geno.1998.5276
Citation  Burwinkel B, et al. (1998) Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice. Genomics 49(3):462-6
abstractText  Paralemmin is a newly identified protein that is associated with the plasma membrane and with intracellular membranes through a lipid anchor. It is abundant in brain, is expressed at intermediate levels in the kidney and in endocrine cells, and occurs at low levels in many other tissues. As it is a candidate for genetic disorders that affect membrane functions, we have determined the structure of the human paralemmin gene, PALM showing that it is organized into nine exons. Moreover, we have performed chromosomal assignments of the human and mouse paralemmin genes, localizing them to regions of homology at human 19p13.3 and the central mouse chromosome 10. Finally, mutation analysis using RNA from mice homozygous for the mutant genes grizzled (gr), mocha (mh), mocha 2J (mh(2J)), jittery (ji) and hesitant (ji(hes)), which map to this area, excluded mutations in their Palm coding sequences. (C) 1998 Academic Press.
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