Title : A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region.

Pub. Date : 1995 Apr 24

PMID : 7727545






8 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Acid sphingomyelinase (ASM) is the lysosomal enzyme required to hydrolyze sphingomyelin into ceramide and phosphocholine. Sphingomyelins sphingomyelin phosphodiesterase 1 Homo sapiens
2 Acid sphingomyelinase (ASM) is the lysosomal enzyme required to hydrolyze sphingomyelin into ceramide and phosphocholine. Ceramides sphingomyelin phosphodiesterase 1 Homo sapiens
3 Acid sphingomyelinase (ASM) is the lysosomal enzyme required to hydrolyze sphingomyelin into ceramide and phosphocholine. Ceramides sphingomyelin phosphodiesterase 1 Homo sapiens
4 Acid sphingomyelinase (ASM) is the lysosomal enzyme required to hydrolyze sphingomyelin into ceramide and phosphocholine. Phosphorylcholine sphingomyelin phosphodiesterase 1 Homo sapiens
5 Acid sphingomyelinase (ASM) is the lysosomal enzyme required to hydrolyze sphingomyelin into ceramide and phosphocholine. Phosphorylcholine sphingomyelin phosphodiesterase 1 Homo sapiens
6 Analysis of the ASM cDNA and genomic sequences revealed a unique hexanucleotide sequence, CTGG(TC)(GT), located within the signal peptide region of the ASM polypeptide (corresponding to the hydrophobic amino acid sequence LVLALALALALA). hexanucleotide sphingomyelin phosphodiesterase 1 Homo sapiens
7 Analysis of the ASM cDNA and genomic sequences revealed a unique hexanucleotide sequence, CTGG(TC)(GT), located within the signal peptide region of the ASM polypeptide (corresponding to the hydrophobic amino acid sequence LVLALALALALA). hexanucleotide sphingomyelin phosphodiesterase 1 Homo sapiens
8 Notably, five hexanucleotide repeat units were found in the full-length cDNA, while the genomic sequence contained six, suggesting that this region of the ASM gene may be polymorphic. hexanucleotide sphingomyelin phosphodiesterase 1 Homo sapiens