ALG12

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)
End	49,918,438 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	88,703,521 bp
RNA expression pattern
	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
	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
	79087
	223774
	ENSG00000182858
	ENSMUSG00000035845
	Q9BV10
	Q8VDB2
	NM_024105
	NM_001142357; NM_145477
	NP_077010
	NP_001135829; NP_663452
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182858 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035845 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (Jul 2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase". J Biol Chem. 277 (28): 25815–22. doi:10.1074/jbc.M203285200. PMID 11983712.
^ ^a ^b "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)".

External links

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182858 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035845 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11983712-5] Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (Jul 2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase". J Biol Chem. 277 (28): 25815–22. doi:10.1074/jbc.M203285200. PMID 11983712.

[entrez-6] "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)".

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References

Further reading

External links