ALG14 - ALG14 UDP-N-acetylglucosaminyltransferase subunit Gene

Homo sapiens

Also known as CMS15; MEPCA; IDDEBF

Gene ID: 199857 | Gene type: protein coding

About ALG14

Cytogenetic location: 1p21.3 Genomic coordinates (GRCh38): 1:94,974,405-95,072,951 (from NCBI)

This gene has 3 transcripts (splice variants), 192 orthologues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 2.5), thyroid (RPKM 2.5) and 25 other tissues.

Summary

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

ALG14 Products(2)

mRNA	Protein	Name
NM_001305242.2	NP_001292171.1	UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform 2
NM_144988.4	NP_659425.1	UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform 1

ALG14 Protein Structure

Alg14

0
100
200
216 a.a.

Protein Preferred Names

Protein Names

UDP-N-acetylglucosamine transferase subunit ALG14 homolog

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 15

Congenital Myasthenic Syndrome 15	CMS15
Myasthenic Syndrome, Congenital, Without Tubular Aggregates	Cmswta
Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates	Congenital Myasthenic Syndrome 15 Without Tubular Aggregates
Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates

Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies

IDDEBF

Myopathy, Epilepsy, And Progressive Cerebral Atrophy

MEPCA

Congenital Myasthenic Syndromes With Glycosylation Defect

Cerebral Atrophy

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Myopathy, Myofibrillar, 8

Myofibrillar Myopathy 8	MFM8
Myopathy, Myofibrillar, Type 8

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

Myopathy, Centronuclear, 4

CNM4	Centronuclear Myopathy 4
Congenital Myopathy With Internal Nuclei And Atypical Cores	Centronuclear Myopathy Type 4
Myopathy, Centronuclear, Type 4

Myasthenic Syndrome, Congenital, 12

Congenital Myasthenic Syndrome 12	CMS12
Myasthenic Syndrome, Congenital, With Tubular Aggregates 1	Cmsta1
Myasthenia, Congenital, 12, With Tubular Aggregates	Congenital Myasthenia 12 With Tubular Aggregates
Limb-Girdle Myasthenia With Tubular Aggregates	Myasthenia, Congenital, With Tubular Aggregates 1
Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1

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

Myopathy, Centronuclear, 5

CNM5	Centronuclear Myopathy 5
Myopathy, Centronuclear, Type 5

Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14	CMS14
Cmsta3	Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates	Congenital Myasthenic Syndrome 14, With Tubular Aggregates
Congenital Myasthenic Syndrome With Tubular Aggregates 3	Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3
Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates

Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7	MFM7
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome	Myopathy, Myofibrillar, Type 7

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Echinostomiasis

Infection By Echinochasmus

Congenital Muscular Dystrophy-Dystroglycanopathy A14

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14	Mddga14
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14

Spinocerebellar Ataxia, Autosomal Recessive 10

SCAR10	Autosomal Recessive Spinocerebellar Ataxia 10
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Autosomal Recessive Spinocerebellar Ataxia Type 10
Spinocerebellar Ataxia, Autosomal Recessive, 10	Ataxia, Spinocerebellar, Autosomal Recessive, Type 10

Congenital Disorder Of Glycosylation, Type Iiq

CDG2Q	Cdg Iiq
Cdgiiq	Congenital Disorder Of Glycosylation Type Iiq
Cog2-Cdg	Cog2-Related Congenital Disorder Of Glycosylation
Cdgiidq	Congenital Disorder Of Glycosylation 2q
Cdg-Iiq

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Developmental And Epileptic Encephalopathy 15

DEE15	Epileptic Encephalopathy, Early Infantile, 15
Eiee15	Developmental And Epileptic Encephalopathy, 15
Early Infantile Epileptic Encephalopathy 15	Encephalopathy, Epileptic, Early Infantile, Type 15
Early Infantile Epileptic Encephalopathy With Suppression Bursts	X-Linked Infantile Spasm Syndrome

Myopathy

Muscular Diseases

Myopathies

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Cohen Syndrome

Pepper Syndrome	COH1
Hypotonia, Obesity, And Prominent Incisors	Coh
Chs1, Formerly	Norio Syndrome
Obesity-Hypotonia Syndrome	Prominent Incisors-Obesity-Hypotonia Syndrome
Chs1	Hypotonia-Obesity-Prominent Incisors
Stage 4s Neuroblastoma

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

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-RS00591	ALG14 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ALG14	VGNC	VGNC:25826
Mus musculus	ALG14	MGD	MGI:1914039
Canis familiaris	ALG14	VGNC	VGNC:37796
Felis catus	ALG14	VGNC	VGNC:59744
Rattus norvegicus	ALG14	RGD	RGD:1312003

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