Gene: LOC101930307

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: MAN1B1

Alternate names for this Gene: ERMAN1|ERManI|MANA-ER|MRT15

Gene Summary: This gene 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 transcript variants. A related pseudogene has been identified on chromosome 11.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: mannosidase alpha class 1B member 1

Type of Gene: protein-coding

rs387906885 in LOC101930307;MAN1B1 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 PMID 21763484 2011 Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.