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Basic information of MANBA :

Official Symbol of Gene MANBA
Species Homo sapiens
Entrez Gene ID 4126
Official Full Name mannosidase beta
Also known as MANB1
Gene Type protein coding
dbXrefs Ensembl:ENSG00000109323 MIM:609489; AllianceGenome:HGNC:6831
Map Location 4q24
Variation Type SNP
refSNP ID rs7665090

Sample information of multiple sclerosis:

Detected Sample Blood
Sample Detail N/A
Detected Method RT-PCR
Disease MS
Disease subtype RRMS
Population N/A
Sample Size 152 MS patients,112 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 35897697
Year 2022
Title Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation

Results of multiple sclerosis :

Risk Type Disease risk
Main Result positive
Result Our work provides new evidence highlighting the impact of the MS-risk variant, rs7665090, and the role of MANBA in the immunopathology of MS.
Mechanism/Pathway Significantly decreased enzymatic activity and lysosomal function and significantly lower lymphocyte and metabolic activations in response to stimulus were detected in MS carriers of the GG genotype compared to controls with the same genotype, while the rs7665090*AA genotype led to similar effects both in patients and controls.