ALG12

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

Description

ALG12 alpha-1,6-mannosyltransferase

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22:q13.33 (49900229 - 49918438)

Ensembl ID

ENSG00000182858  (ver. 103.38)

Orthologs

Mouse Alg12: ENSMUSG00000035845

UniProt

Q9BV10

neXtProt

NX_Q9BV10

Human splice variants
Mouse splice variants