Reviewed January 2008
What is the official name of the MANBA gene?
The official name of this gene is “mannosidase, beta A, lysosomal.”
MANBA is the gene's official symbol. The MANBA gene is also known by other names, listed below.
What is the normal function of the MANBA gene?
The MANBA gene provides instructions for making the enzyme beta-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). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose.
How are changes in the MANBA gene related to health conditions?
- beta-mannosidosis - caused by mutations in the MANBA gene
Approximately 12 mutations that cause beta-mannosidosis have been identified in the MANBA gene. The mutations result in a beta-mannosidase enzyme with little or no activity, and interfere with the ability of the enzyme to perform its role in breaking down mannose-containing disaccharides. These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis.
Where is the MANBA gene located?
Cytogenetic Location: 4q22-q25
Molecular Location on chromosome 4: base pairs 103,552,642 to 103,682,150
The MANBA gene is located on the long (q) arm of chromosome 4 between positions 22 and 25.
More precisely, the MANBA gene is located from base pair 103,552,642 to base pair 103,682,150 on chromosome 4.
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 MANBA?
You and your healthcare professional may find the following resources about MANBA 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=(MANBA%5BTIAB%5D)%20OR%20((MANB1%5BTIAB%5D)%20OR%20(mannase%5BTIAB%5D)%20OR%20(mannanase%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/609489)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MANBA.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4126)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=4126)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=6831)
What other names do people use for the MANBA gene or gene products?
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 MANBA?
You may find definitions for these and many other terms in the Genetics Home Reference
- Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Hum Mol Genet. 1998 Jan;7(1):75-83. (http://www.ncbi.nlm.nih.gov/pubmed/9384606?dopt=Abstract)
- Bedilu R, Nummy KA, Cooper A, Wevers R, Smeitink J, Kleijer WJ, Friderici KH. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab. 2002 Dec;77(4):282-90. (http://www.ncbi.nlm.nih.gov/pubmed/12468273?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4126)
- Essentials of Glycobiology (1999): Glycoprotein Degradation (http://www.ncbi.nlm.nih.gov/books/NBK20729/)
- Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabás A. Molecular analysis in two beta-mannosidosis patients: description of a new adult case. Mol Genet Metab. 2006 Dec;89(4):398-400. Epub 2006 Aug 14. (http://www.ncbi.nlm.nih.gov/pubmed/16904924?dopt=Abstract)
- Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A. Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol. 2007 Sep;57(3):407-12. Epub 2007 Apr 8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17420068?dopt=Abstract)
- OMIM: MANNOSIDASE, BETA A, LYSOSOMAL (http://omim.org/entry/609489)
- Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. Br J Dermatol. 2003 Jul;149(1):23-9. (http://www.ncbi.nlm.nih.gov/pubmed/12890191?dopt=Abstract)
- Zhu M, Lovell KL, Patterson JS, Saunders TL, Hughes ED, Friderici KH. Beta-mannosidosis mice: a model for the human lysosomal storage disease. Hum Mol Genet. 2006 Feb 1;15(3):493-500. Epub 2005 Dec 23. (http://www.ncbi.nlm.nih.gov/pubmed/16377659?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.