MAN1B1 Polyclonal Antibody, 50ul Glassware Sets At least three transcript variants

At least three transcript variants encoding different isoforms have been found for this gene

|Belongs to the 5'-AMP-activated protein kinase beta subunit family

This gene has a polymorphism at codon 54 that identified an alanine-encoding allele and a threonine-encoding allele

TARP syndrome

Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus

MAN1B1 Polyclonal Antibody, 50ul Glassware Sets At least three transcript variantsMAN1B1 encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N glycan biosynthesis, and is a class I alpha 1,2 mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N glycan trimming to Man5 6GlcNAc2 in the endoplasmic reticulum associated degradation pathway. Mutations in this gene cause autosomal recessive intellectual disability. Alternative splicing results in multiple