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Gene: MAN2B1 (mannosidase alpha class 2B member 1) Homo sapiens
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Symbol: MAN2B1
Name: mannosidase alpha class 2B member 1
Description: This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: LAMAN; lysosomal acid alpha-mannosidase; lysosomal alpha-mannosidase; MANB; mannosidase alpha-B; mannosidase, alpha B, lysosomal; mannosidase, alpha, class 2B, member 1
Orthologs:
Mus musculus (house mouse) : Man2b1 (mannosidase 2, alpha B1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Man2b1 (mannosidase, alpha, class 2B, member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Man2b1 (mannosidase alpha class 2B member 1)
Pan paniscus (bonobo/pygmy chimpanzee) : MAN2B1 (mannosidase alpha class 2B member 1)
Canis lupus familiaris (dog) : MAN2B1 (mannosidase alpha class 2B member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Man2b1 (mannosidase alpha class 2B member 1)
Sus scrofa (pig) : MAN2B1 (mannosidase alpha class 2B member 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,646,508 - 12,666,777 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371912,757,322 - 12,777,591 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,618,322 - 12,638,828 (-)NCBINCBI36hg18NCBI36
Build 341912,618,321 - 12,638,828NCBI
Celera1912,647,038 - 12,667,305 (-)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,330,278 - 12,350,679 (-)NCBIHuRef
CHM1_11912,757,826 - 12,778,096 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Genomics

Comparative Map Data
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miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on MAN2B1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1348586
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.