Contents

ALG12

Enzyme-coding gene in humans

ALG12
Identifiers
Aliases	ALG12, CDG1G, ECM39, PP14673, halpha-1,6-mannosyltransferase, ALG12 alpha-1,6-mannosyltransferase
External IDs	OMIM: 607144; MGI: 2385025; HomoloGene: 36269; GeneCards: ALG12; OMA:ALG12 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.33 Start 49,900,229 bp[1] End 49,918,438 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E3 Start 88,689,447 bp[2] End 88,703,521 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of thyroid gland stromal cell of endometrium left lobe of thyroid gland apex of heart body of stomach right lobe of liver mucosa of transverse colon granulocyte body of pancreas testicle Top expressed in spermatid zygote yolk sac granulocyte right kidney tail of embryo lumbar spinal ganglion spermatocyte genital tubercle islet of Langerhans More reference expression data BioGPS More reference expression data
Gene ontology Molecular function dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase transferase activity alpha-1,6-mannosyltransferase activity glycosyltransferase activity mannosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum endoplasmic reticulum lumen Biological process protein glycosylation dolichol-linked oligosaccharide biosynthetic process protein folding mannosylation protein N-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79087 223774 Ensembl ENSG00000182858 ENSMUSG00000035845 UniProt Q9BV10 Q8VDB2 RefSeq (mRNA) NM_024105 NM_001142357 NM_145477 RefSeq (protein) NP_077010 NP_001135829 NP_663452 Location (UCSC) Chr 22: 49.9 – 49.92 Mb Chr 15: 88.69 – 88.7 Mb PubMed search [3] [4]
Wikidata
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Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene.^[5][6]

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.^[6]

References[edit]

Further reading[edit]

External links[edit]

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
• Human ALG12 genome location and ALG12 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.