Gene: MANBA

Alternate names for this Gene: MANB1

Gene Summary: This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement.

Gene is located in Chromosome: 4

Location in Chromosome : 4q24

Description of this Gene: mannosidase beta

Type of Gene: protein-coding

rs227275 in MANBA gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs227283 in MANBA gene and Asthma PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs227283 in MANBA gene and Attention deficit hyperactivity disorder PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs7665090 in MANBA gene and Biliary cirrhosis PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

rs223489 in MANBA gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs228614 in MANBA gene and Cholangitis, Sclerosing PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

rs228611 in MANBA gene and Creatinine measurement, serum (procedure) PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs228611 in MANBA gene and Glomerular Filtration Rate PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs5026472 in MANBA gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs228614 in MANBA gene and Multiple Sclerosis PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs1054037 in MANBA gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

rs7665090 in MANBA gene and Psoriasis PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

rs223498 in MANBA gene and Sarcoidosis PMID 26051272 2015 Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk.

rs1188116333 in MANBA gene and beta-Mannosidosis PMID 12468273 2002 Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.

PMID 12890191 2003 Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.

PMID 16904924 2006 Molecular analysis in two beta-mannosidosis patients: description of a new adult case.

PMID 18565776 2008 Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.

PMID 9384606 1998 Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.

PMID 30552791 2019 The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.

PMID 22369051 2011 A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.

PMID 17420068 2007 Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.

PMID 19728872 2009 A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

PMID 30872814 2019 Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.