Reviewed December 2007
What is the official name of the MAN2B1 gene?
The official name of this gene is “mannosidase, alpha, class 2B, member 1.”
MAN2B1 is the gene's official symbol. The MAN2B1 gene is also known by other names, listed below.
What is the normal function of the MAN2B1 gene?
The MAN2B1 gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose.
How are changes in the MAN2B1 gene related to health conditions?
- alpha-mannosidosis - caused by mutations in the MAN2B1 gene
Approximately 70 mutations that cause alpha-mannosidosis have been identified in the MAN2B1 gene. Some of these mutations change one protein building block (amino acid) in the alpha-mannosidase enzyme. Other mutations result in an abnormally shortened enzyme, or cause the enzyme to be pieced together incorrectly.
These mutations interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause the cells to malfunction and eventually die, resulting in the signs and symptoms of alpha-mannosidosis.
Where is the MAN2B1 gene located?
Cytogenetic Location: 19p13.2
Molecular Location on chromosome 19: base pairs 12,757,321 to 12,777,590
The MAN2B1 gene is located on the short (p) arm of chromosome 19 at position 13.2.
More precisely, the MAN2B1 gene is located from base pair 12,757,321 to base pair 12,777,590 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about MAN2B1?
You and your healthcare professional may find the following resources about MAN2B1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(MAN2B1%5BTIAB%5D)%20OR%20((LAMAN%5BTIAB%5D)%20OR%20(lysosomal%20acid%20alpha-mannosidase%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/609458)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=4125)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=6826)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4125)
What other names do people use for the MAN2B1 gene or gene products?
- lysosomal acid alpha-mannosidase
- mannosidase, alpha B, lysosomal
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding MAN2B1?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O. Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet. 1999 Jan;64(1):77-88. (http://www.ncbi.nlm.nih.gov/pubmed/9915946?dopt=Abstract)
- Essentials of Glycobiology (second edition, 2009): Glycoprotein Degradation (http://www.ncbi.nlm.nih.gov/books/NBK1934/)
- Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Am J Hum Genet. 1998 Oct;63(4):1015-24. (http://www.ncbi.nlm.nih.gov/pubmed/9758606?dopt=Abstract)
- Hansen G, Berg T, Riise Stensland HM, Heikinheimo P, Klenow H, Evjen G, Nilssen Ø, Tollersrud OK. Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. Biochem J. 2004 Jul 15;381(Pt 2):537-46. (http://www.ncbi.nlm.nih.gov/pubmed/15035660?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4125)
- OMIM: MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1 (http://omim.org/entry/609458)
- Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T. Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. Clin Chim Acta. 2007 Jan;375(1-2):136-9. Epub 2006 Jul 6. (http://www.ncbi.nlm.nih.gov/pubmed/16919251?dopt=Abstract)
- Riise HM, Berg T, Nilssen O, Romeo G, Tollersrud OK, Ceccherini I. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). Genomics. 1997 Jun 1;42(2):200-7. (http://www.ncbi.nlm.nih.gov/pubmed/9192839?dopt=Abstract)
- Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. Hum Mutat. 2005 Mar;25(3):320. (http://www.ncbi.nlm.nih.gov/pubmed/15712269?dopt=Abstract)
- Sun H, Wolfe JH. Recent progress in lysosomal alpha-mannosidase and its deficiency. Exp Mol Med. 2001 Mar 31;33(1):1-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11322479?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.