ALG3 - ALG3 alpha-1,3- mannosyltransferase Gene

Homo sapiens

Also known as not; CDG1D; CDGS4; CDGS6; Not56; NOT56L; D16Ertd36e

Gene ID: 10195 | Gene type: protein coding

About ALG3

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,242,301-184,249,525 (from NCBI)

This gene has 14 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.3), placenta (RPKM 9.7) and 25 other tissues.

Summary

This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

ALG3 Products(2)

mRNA	Protein	Name
NM_001006941.2	NP_001006942.1	dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d
NM_005787.6	NP_005778.1	dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform a

ALG3 Protein Structure

ALG3

0
100
200
300
400
438 a.a.

Protein Preferred Names

Protein Names

dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase

Not56-like protein

Related Diseases

Diseases

Alias

Congenital Disorder Of Glycosylation, Type Id

CDG1D	Congenital Disorder Of Glycosylation Id
Congenital Disorder Of Glycosylation 1d	Alg3-Cdg
Cdg Id	Cdgid
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly	Cdgs4, Formerly
Cdgs, Type Iv, Formerly	Cdg Syndrome Type Id
Cdg-Id	Carbohydrate Deficient Glycoprotein Syndrome Type Id
Congenital Disorder Of Glycosylation Type 1d	Congenital Disorder Of Glycosylation Type Id
Mannosyltransferase 6 Deficiency	Carbohydrate-Deficient Glycoprotein Syndrome Type Iv
Cdgs4	Glycosylation, Congenital Disorder Of, Type Id

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2	CGD2
Ncf2 Deficiency	P67-Phox Deficiency
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii
Granulomatous Disease, Chronic, Due To Ncf2 Deficiency	Neutrophil Cytosol Factor 2 Deficiency
Chronic Granulomatous Disease 2, Autosomal Recessive	Autosomal Recessive Chronic Granulomatous Disease 2
Cdg2	Deficiency Of Ncf2
Deficiency Of P67-Phox	Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii
Deficiency Of Neutrophil Cytosol Factor 2	Avellino Corneal Dystrophy

Congenital Disorder Of Glycosylation, Type Iig

CDG2G	Congenital Disorder Of Glycosylation Type Iig
Cdg Iig	Cdgiig
Cdgii/Cog1 Cerebrocostomandibular-Like Syndrome	Carbohydrate Deficient Glycoprotein Syndrome Type Iig
Cdg-Iig	Congenital Disorder Of Glycosylation, Type 2g
Cog1-Cdg	Cdg Syndrome Type Iig
Congenital Disorder Of Glycosylation Type 2g	Congenital Disorder Of Glycosylation 2g
Cdg-Ii Caused By Cog1 Deficiency	Glycosylation, Congenital Disorder Of, Type Iig

Congenital Disorder Of Glycosylation, Type Iip

CDG2P	Tmem199-Cdg
Cdg Iip	Congenital Disorder Of Glycosylation Type Iip
Cdgiip	Carbohydrate Deficient Glycoprotein Syndrome Type Iip
Cdg Syndrome Type Iip	Congenital Disorder Of Glycosylation Type 2p
Cdg-Iip	Cdgiidp
Congenital Disorder Of Glycosylation 2p

Congenital Disorder Of Glycosylation, Type Iio

CDG2O	Ccdc115-Cdg
Cdg Iio	Congenital Disorder Of Glycosylation Type Iio
Cdgiio	Carbohydrate Deficient Glycoprotein Syndrome Type Iio
Cdg Syndrome Type Iio	Congenital Disorder Of Glycosylation Type 2o
Cdg-Iio	Cdgiido
Congenital Disorder Of Glycosylation 2o	Glycosylation, Congenital Disorder Of, Type Iio

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

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

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

Congenital Disorder Of Glycosylation, Type Iia

CDG2A	Congenital Disorder Of Glycosylation Type Iia
Cdg Iia	Cdgiia
Congenital Disorder Of Glycosylation Type 2a	Alkuraya Syndrome
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth	Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
Mgat2-Cdg	Cdg-Iia
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly	Cdgs2, Formerly
Cdgs2	Cdg Syndrome Type Iia
Carbohydrate Deficient Glycoprotein Syndrome Type Iia	N-Acetylglucosaminyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2a	Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
Cdgs Type Ii	Carbohydrate-Deficient Glycoprotein Syndrome Type 2
Glycosylation, Congenital Disorder Of, Type Iia

Dentin Caries

Compound Dental Caries	Dental Caries Extending Into Dentine
Dental Caries Extending Into Dentin

Enamel Caries

Primary Dental Caries	Dental Caries Limited To Enamel
Simple Dental Cavity

Ngly1-Deficiency

Deficiency Of N-Glycanase 1	Ngly1-Cddg
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Ngly1 Deficiency
Congenital Disorder Of Deglycosylation	Congenital Disorder Of Glycosylation Type Iv
Congenital Disorder Of Deglycosylation	Cddg
Congenital Disorder Of Glycosylation Type Iv	Cdg1v

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

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 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

Hyperinsulinemic Hypoglycemia

Nesidioblastosis	Islet Cell Hyperplasia
Persistent Hyperinsulinemia Hypoglycemia Of Infancy	Hyperinsulinemic Hypoglycaemia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00593	ALG3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ALG3	VGNC	VGNC:25828
Mus musculus	ALG3	MGD	MGI:1098592
Canis familiaris	ALG3	VGNC	VGNC:37798
Rattus norvegicus	ALG3	RGD	RGD:1306004
Felis catus	ALG3	VGNC	VGNC:59746
Macaca mulatta	ALG3	VGNC	VGNC:84241

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