Genomic structure of the human lysosomal α-mannosidase gene (MANB)

Hilde Monica Frostad Riise, Thomas Berg, Øivind Nilssen, Giovanni Romeo, Ole Kristian Tollersrud, Isabella Ceccherini

Research output: Contribution to journalArticlepeer-review

Abstract

Lysosomal α-mannosidase (LAMAN) (EC 3.2.1.24) is an exoglycosidase involved in the ordered degradation of N-linked oligosaccharides. Lack of LAMAN activity leads to the lysosomal storage disorder α-mannosidosis (MIM No. 248500). We determined the genomic organization of the human lysosomal α-mannosidase gene (laman; HGMW-approved symbol MANB) by using oligonucleotide primers designed from the human laman cDNA sequence as part of a PCR-based strategy. The gene spanned 21.5 kb and contained 24 exons. By primer extension analysis, the major transcription initiation sites were mapped to positions -309, -196, and -191 relative to the first in-frame ATG. No CAAT or TATA sequences could be identified within 134 bp upstream of the transcription initiation sites, but the 5' flanking region contained several GC-rich regions with putative binding sites for the transcription factors SP- 1, AP-2, and ETF.

Original languageEnglish
Pages (from-to)200-207
Number of pages8
JournalGenomics
Volume42
Issue number2
DOIs
Publication statusPublished - Jun 1 1997

ASJC Scopus subject areas

  • Genetics

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