ALG12 - ALG12 alpha-1,6-mannosyltransferase Gene

Also Known as CDG1G; ECM39; hALG12; PP14673

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79087

About ALG12

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:49,859,311-49,918,438 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.8), prostate (RPKM 8.3) and 25 other tissues.

Summary

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]

ALG12 Products (1)

mRNA	Protein	Name
NM_024105.4	NP_077010.1	dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase	IMP IMP: Inferred from mutant phenotype	11983712	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within dolichol-linked oligosaccharide biosynthetic process	IDA IDA: Inferred from direct assay	11983712	GOA
involved in dolichol-linked oligosaccharide biosynthetic process	IMP IMP: Inferred from mutant phenotype	11983712	GOA
involved in protein N-linked glycosylation	IMP IMP: Inferred from mutant phenotype	11983712	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALG12 Protein Structure

Glyco_transf_22

0
100
200
300
400
488 a.a.

Protein Preferred Names	Protein Names
dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase	asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Ig	CDG1G Alg12-Congenital Disorder Of Glycosylation Cdg Ig Congenital Disorder Of Glycosylation Type 1g Congenital Disorder Of Glycosylation Type Ig Cdgig Congenital Disorder Of Glycosylation Ig Congenital Disorder Of Glycosylation 1g Cdg-Ig Alg12-Cdg Cdg Syndrome Type Ig Carbohydrate Deficient Glycoprotein Syndrome Type Ig Mannosyltransferase 8 Deficiency Glycosylation, Congenital Disorder Of, Type Ig
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Mitochondrial Complex I Deficiency, Nuclear Type 33	MC1DN33 Nuclear Type Mitochondrial Complex I Deficiency 33 Mitochondrial Complex 1 Deficiency, Nuclear Type 33
Congenital Disorder Of Glycosylation, Type Il	Cdg Il CDG1L Cdgil Congenital Disorder Of Glycosylation Il Congenital Disorder Of Glycosylation 1l Cdg-Il Congenital Disorder Of Glycosylation Type Il Glycosylation, Congenital Disorder Of, Type Il Congenital Disorder Of Glycosylation Type 1l
Immunodeficiency 23	Cid Due To Pgm3 Deficiency Combined Immunodeficiency Due To Pgm3 Deficiency Pgm3-Cdg Pgm3-Related Congenital Disorder Of Glycosylation IMD23 Immunodeficiency With Hyper Ige And Cognitive Impairment Immunodeficiency-Vasculitis-Myoclonus Syndrome Ivms Phosphoglucomutase 3 Deficiency Phosphoglucomutase Deficiency Type 3 Pgm3-Congenital Disorder Of Glycosylation Agm1 Deficiency Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1 Deficiency Of Phosphoglucomutase 3 Pgm3 Deficiency Immunodeficiency, Type 23
Congenital Disorder Of Glycosylation, Type Iik	CDG2K Congenital Disorder Of Glycosylation Type Iik Cdg Iik Cdgiik Carbohydrate Deficient Glycoprotein Syndrome Type Iik Cdg Syndrome Type Iik Congenital Disorder Of Glycosylation Type 2k Tmem165-Cdg Cdg-Iik Cdgiidk Congenital Disorder Of Glycosylation 2k Glycosylation, Congenital Disorder Of, Type Iik
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iib	CDG2B CDGIIB Glucosidase I Deficiency Congenital Disorder Of Glycosylation Type Iib Cdg Iib Mogs-Cdg Cdg Syndrome Type Iib Cdg-Iib Carbohydrate Deficient Glycoprotein Syndrome Type Iib Congenital Disorder Of Glycosylation Type 2b Glucosidase 1 Deficiency Type Iib Congenital Disorder Of Glycosylation Glycosylation, Congenital Disorder Of, Type Iib
Hydronephrosis	Stricture Of Ureteropelvic Junction With Hydronephrosis Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Schneckenbecken Dysplasia	SHNKND Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis Chondrodysplasia Lethal Neonatal With Snail Like Pelvis Chondrodysplasia With Snail-Like Pelvis Slc35d1-Cdg Dysplasia, Schneckenbecken
Congenital Disorder Of Glycosylation, Type Iid	CDG2D Congenital Disorder Of Glycosylation Type Iid Cdg Iid Cdgiid B4galt1-Cdg Cdg-Iid Congenital Disorder Of Glycosylation Type 2d Beta-1,4-Galactosyltransferase Deficiency Cdg Syndrome Type Iid Carbohydrate Deficient Glycoprotein Syndrome Type Iid Congenital Disorder Of Glycosylation 2d Glycosylation, Congenital Disorder Of, Type Iid Congenital Disorder Of Glycosylation, Type Iiid
Chromosome 17q12 Deletion Syndrome	17q12 Microdeletion Syndrome Del(17)(Q12) Monosomy 17q12
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 3 CDLS3 Cornelia De Lange Syndrome, Type 3
Congenital Disorder Of Glycosylation, Type Iif	CDG2F Congenital Disorder Of Glycosylation Type Iif Cdg Iif Cdgiif Carbohydrate Deficient Glycoprotein Syndrome Type Iif Cmp-Sialic Acid Transporter Deficiency Slc35a1-Cdg Cdg-Iif Cdgiidf Cdg Syndrome Type Iif Congenital Disorder Of Glycosylation Type 2f Congenital Disorder Of Glycosylation 2f Glycosylation, Congenital Disorder Of, Type Iif
Congenital Disorder Of Glycosylation, Type Iij	CDG2J Congenital Disorder Of Glycosylation Type Iij Cdg Iij Cdgiij Carbohydrate Deficient Glycoprotein Syndrome Type Iij Cdg Syndrome Type Iij Congenital Disorder Of Glycosylation Type 2j Cog4-Cdg Cdg-Iij Cdgiidj Congenital Disorder Of Glycosylation 2j Glycosylation, Congenital Disorder Of, Type Iij
Congenital Disorder Of Glycosylation, Type Iin	CDG2N Slc39a8-Cdg Cdg Iin Congenital Disorder Of Glycosylation Type Iin Cdgiin Carbohydrate Deficient Glycoprotein Syndrome Type Iin Cdg Syndrome Type Iin Congenital Disorder Of Glycosylation Type 2n Cdg-Iin Cdgiidn Slc39a8 Deficiency Congenital Disorder Of Glycosylation 2n Glycosylation, Congenital Disorder Of, Type Iin
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Mannosidosis, Beta A, Lysosomal	Beta-Mannosidosis Lysosomal Beta-Mannosidase Deficiency Beta-Mannosidase Deficiency Beta-D-Mannosidosis Mannosidosis, Beta MANSB Lysosomal Beta A Mannosidosis
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00589	ALG12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-182586	Decyl gallate	Activator	/	Unkown
HY-RS22384	Alg12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28908	Alg12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALG12	RGD	RGD:1304826
Mus musculus	ALG12	MGD	MGI:2385025
Canis familiaris	ALG12	VGNC	VGNC:37795
Bos taurus	ALG12	VGNC	VGNC:25825
Felis catus	ALG12	VGNC	VGNC:59743
Macaca mulatta	ALG12	VGNC	VGNC:69637
Others	ALG12	NCBI