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Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.
Institut für Organische Chemie und Biochemie, Bonn, Germany.
Full-length cDNAs coding for the human GM2-activator protein has been isolated and characterized, and its genomic structure studied in two overlapping clones in lambda-EMBL-4 isolated from a human brain genomic library. Two different cDNAs were found that were identical to the 5'-terminus to nt 1311 (counted from the A of the initiation codon, ATG) including the entire protein coding sequence. However, they were entirely dissimilar in the 3'-non-coding sequences. The genomic clones covered 94% of the full-length cDNA sequence. Three introns were found. The last exon spans contiguously the carboxyl terminus of the protein and the entire 3'-untranslated region of one of the two cDNAs with different 3'-ends. The origin of the 3'-portion of the other cDNA clone is not clear at this time.
PMID: 1915857 [PubMed - indexed for MEDLINE]
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Cited by 9 PubMed Central articles
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ReviewBiosynthesis and degradation of mammalian glycosphingolipids.
Sandhoff K, Kolter T.
Philos Trans R Soc Lond B Biol Sci. 2003 May 29; 358(1433):847-61.
[Philos Trans R Soc Lond B Biol Sci. 2003]
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Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.
Chen B, Rigat B, Curry C, Mahuran DJ.
Am J Hum Genet. 1999 Jul; 65(1):77-87.
[Am J Hum Genet. 1999]
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Requirement of GM2 ganglioside activator for phospholipase D activation.
Nakamura S, Akisue T, Jinnai H, Hitomi T, Sarkar S, Miwa N, Okada T, Yoshida K, Kuroda S, Kikkawa U, et al.
Proc Natl Acad Sci U S A. 1998 Oct 13; 95(21):12249-53.
[Proc Natl Acad Sci U S A. 1998]
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