title: Isolation of a cDNA encoding the human GM2 activator protein.
abstract: The GM2 activator protein is a glycolipid-binding protein required for the lysosomal degradation of ganglioside GM2. A human fibroblast cDNA library was screened with mixtures of oligonucleotide probes corresponding to four different areas of the amino acid sequence. A putative clone (821 bp) which gave positive signals to all four probe mixtures was purified and sequenced. The sequence was colinear with the sequence of 160 amino acids of the mature GM2 activator protein. Availability of the cDNA clone should facilitate investigation into function of the GM2 activator protein and also into genetic abnormalities underlying GM2 gangliosidosis AB variant.
authors.affiliation: Institut für Organische Chemie und Biochemie, Bonn, FRG.
authors.forename: M
authors.initials: M
authors.lastname: Schröder
authors.forename: H
authors.initials: H
authors.lastname: Klima
authors.forename: T
authors.initials: T
authors.lastname: Nakano
authors.forename: H
authors.initials: H
authors.lastname: Kwon
authors.forename: L E
authors.initials: LE
authors.lastname: Quintern
authors.forename: S
authors.initials: S
authors.lastname: Gärtner
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Sandhoff
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002461:Cell Line, Transformed; D003062:Codon; D004247:DNA / Q000235:genetics / Q000302:isolation & purification*; D005347:Fibroblasts / Q000032:analysis; D049289:G(M2) Activator Protein; D005678:G(M2) Ganglioside; D006801:Humans; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D003062:Codon; D049289:G(M2) Activator Protein; D015345:Oligonucleotide Probes; D011506:Proteins; D012333:RNA, Messenger; D005678:G(M2) Ganglioside; D004247:DNA