Gene: WDR83

Alternate names for this Gene: MORG1

Gene Summary: This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: WD repeat domain 83

Type of Gene: protein-coding

Gene: MAN2B1

Alternate names for this Gene: LAMAN|MANB

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: mannosidase alpha class 2B member 1

Type of Gene: protein-coding

rs1429239930 in WDR83;MAN2B1 gene and alpha-Mannosidosis PMID 15712269 2005 Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D).

PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 21368911 2011 Clinical utility gene card for: α-mannosidosis.

PMID 12718372 2003 Alpha-mannosidosis and mutational analysis in a Turkish patient.

PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

PMID 9158146 1997 alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

PMID 15712269 2005 Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

PMID 9915946 1999 Spectrum of mutations in alpha-mannosidosis.

PMID 25762455 2015 amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.

PMID 21505070 2011 Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.