Gene: ALG12 (ALG12, alpha-1,6-mannosyltransferase)
Homo sapiens
Symbol:
ALG12
Name:
ALG12, alpha-1,6-mannosyltransferase
Description:
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]
Type:
protein-coding
RefSeq Status:
REVIEWED
Also known as:
asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase); asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase); asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog; asparagine-linked glycosylation protein 12 homolog; CDG1G; dol-P-Man dependent alpha-1,6-mannosyltransferase; dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase; dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase; dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase; ECM39; hALG12; mannosyltransferase ALG12 homolog; membrane protein SB87; MGC111358; MGC3136; OTTHUMP00000196969; PP14673
Orthologs:
Mus musculus : Alg12
(asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase))
MGI
Alg12
(asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 22 34,211,609 - 34,226,863 - NCBI Human Genome Assembly HuRef 22 33,243,697 - 33,258,951 - NCBI Human Genome Assembly GRCh37 22 50,296,852 - 50,312,106 - NCBI Human Celera Assembly 22 34,218,131 - 34,233,386 - NCBI Human Genome Assembly Build 36 22 48,682,856 - 48,698,110 - NCBI Human Cytogenetic Map 22 q13.33 NCBI Human Genome Assembly 22 48,617,716 - 48,632,967 NCBI
Model
Disease Annotations
Gene-Chemical Interaction Annotations
2,3,7,8-tetrachlorodibenzodioxine decreases expression ISO RGD:1622983 6480464 Tetrachlorodibenzodioxin results in decreased expression of ALG12 mRNA CTD PMID:19465110 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:1622983 6480464 Tetrachlorodibenzodioxin affects the expression of ALG12 mRNA CTD PMID:21570461 2,4-dinitrotoluene affects expression ISO RGD:1304826 6480464 2,4-dinitrotoluene affects the expression of ALG12 mRNA CTD PMID:21346803 2,4-dinitrotoluene affects expression ISO 6480464 2,4-dinitrotoluene affects the expression of ALG12 mRNA CTD PMID:21346803 2,6-dinitrotoluene affects expression ISO RGD:1304826 6480464 2,6-dinitrotoluene affects the expression of ALG12 mRNA CTD PMID:21346803 2,6-dinitrotoluene affects expression ISO 6480464 2,6-dinitrotoluene affects the expression of ALG12 mRNA CTD PMID:21346803 2-amino-2-deoxy-D-glucopyranose decreases expression ISO RGD:1622983 6480464 Glucosamine results in decreased expression of ALG12 mRNA CTD PMID:17178593 aldehydo-D-glucosamine decreases expression ISO RGD:1622983 6480464 Glucosamine results in decreased expression of ALG12 mRNA CTD PMID:17178593 amiodarone increases expression EXP 6480464 Amiodarone results in increased expression of ALG12 mRNA CTD PMID:19774075 benzo[a]pyrene multiple interactions ISO RGD:1622983 6480464 [Benzo(a)pyrene co-treated with XPA gene mutant form co-treated with TRP53 gene mutant form] results in increased expression of ALG12 mRNA CTD PMID:21715664 benzo[a]pyrene increases expression ISO RGD:1622983 6480464 Benzo(a)pyrene results in increased expression of ALG12 mRNA CTD PMID:22228805 beta-D-glucosamine decreases expression ISO RGD:1622983 6480464 Glucosamine results in decreased expression of ALG12 mRNA CTD PMID:17178593 D-glucose decreases expression ISO RGD:1622983 6480464 Glucose results in decreased expression of ALG12 mRNA CTD PMID:17178593 glucose decreases expression ISO RGD:1622983 6480464 Glucose results in decreased expression of ALG12 mRNA CTD PMID:17178593 paracetamol affects expression ISO RGD:1622983 6480464 Acetaminophen affects the expression of ALG12 mRNA CTD PMID:17562736 propiconazole increases expression ISO RGD:1622983 6480464 propiconazole results in increased expression of ALG12 mRNA CTD PMID:21278054 valproic acid affects expression ISO RGD:1622983 6480464 Valproic Acid affects the expression of ALG12 mRNA CTD PMID:17292431 
Gene-Chemical Interaction Annotations
