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

doi:10.1016/0925-4439(95)00050-e

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Article

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

Biochimica et biophysica acta - 24 Apr 1995

Wan Q, Schuchman E H

Abstract excerpt

Acid sphingomyelinase (ASM) is the lysosomal enzyme required to hydrolyze sphingomyelin into ceramide and phosphocholine. In man, a deficiency of this enzymatic activity leads to Types A and B Niemann-Pick disease (NPD), a panethnic disease with a relatively high incidence among Ashkenazi Jewish individuals. Analysis of the ASM cDNA and genomic sequences revealed a unique hexanucleotide sequence, CTGG(TC)(GT),...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 11
DNA Primers
DNA, Complementary
Female
Genetic Variation
Humans
Jews
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Niemann-Pick Diseases

Oligodeoxyribonucleotides

Pedigree

Polymorphism, Genetic

Protein Sorting Signals

Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 7727545
DOI: 10.1016/0925-4439(95)00050-e

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7727545-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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