2. Gene
  3. LARGE1 - LARGE xylosyl- and glucuronyltransferase 1 Gene

LARGE1 - LARGE xylosyl- and glucuronyltransferase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as LARGE; MDC1D; MDDGA6; MDDGB6

Gene ID: 9215 | Gene type: protein coding

About LARGE1

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:33,066,663-33,922,824 (from NCBI)

This gene has 32 transcripts (splice variants), 227 orthologues, 5 paralogues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 9.1), heart (RPKM 8.9) and 23 other tissues.

Summary

This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

LARGE1 Products(13)

mRNA Protein Name
NM_001362949.2 NP_001349878.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001362951.2 NP_001349880.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001362953.2 NP_001349882.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378624.1 NP_001365553.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378625.1 NP_001365554.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378626.1 NP_001365555.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001378627.1 NP_001365556.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2
NM_001378628.1 NP_001365557.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2
NM_001378629.1 NP_001365558.1 xylosyl- and glucuronyltransferase LARGE1 isoform 3
NM_001378630.1 NP_001365559.1 xylosyl- and glucuronyltransferase LARGE1 isoform 4
NM_001378631.1 NP_001365560.1 xylosyl- and glucuronyltransferase LARGE1 isoform 5
NM_004737.7 NP_004728.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_133642.5 NP_598397.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1

LARGE1 Protein Structure

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (152 - 386)

Glyco_transf_49

Glyco_transf_49: Glycosyl-transferase for dystroglycan (536 - 743)

  • 0
  • 200
  • 400
  • 600
  • 756 a.a.
Protein Preferred Names Protein Names

xylosyl- and glucuronyltransferase LARGE1

acetylglucosaminyltransferase-like 1A

Related Diseases

Diseases Alias
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Muscular Dystrophy-Dystroglycanopathy Type B6

MDDGB6

Mdc1d

Muscular Dystrophy, Congenital, Type 1d

Congenital Muscular Dystrophy Type 1d

Dystrophy, Muscular, Dystroglycanopathy , Type B6

Muscular Dystrophy, Congenital, Large-Related

Congenital Muscular Dystrophy Large-Related

Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6

Muscular Dystrophy Large-Related
Muscular Dystrophy-Dystroglycanopathy , Type A, 6

MDDGA6

Muscular Dystrophy-Dystroglycanopathy , Type A6

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A6

Muscle-Eye-Brain Disease Large-Related

Walker-Warburg Syndrome Large-Related

Dystrophy, Muscular, Dystroglycanopathy , Type A6
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A6

Mddga6

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A6
Congenital Muscular Dystrophy With Intellectual Disability

Cmd With Intellectual Disability

Cmd-Mr
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
Muscular Dystrophy-Dystroglycanopathy , Type A, 1

Hard Syndrome

MDDGA1

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Muscular Dystrophy-Dystroglycanopathy , Type A1

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Hydrocephalus, Agyria, And Retinal Dysplasia

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1

Cerebroocular Dysgenesis

Cod

Hard +/- E Syndrome

Hydrocephalus-Agyria-Retinal Dysplasia

Meb

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Disease Pomt1-Related

Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a

Walker-Warburg Syndrome

Walker-Warburg Syndrome Pomt1-Related

Warburg Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy , Type A1

Walker-Warburg Congenital Muscular Dystrophy

Muscle Eye Brain Disease
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Muscle Eye Brain Disease

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Syndrome

Meb

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

Meb Syndrome

Santavuori Congenital Muscular Dystrophy
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy

Fcmd

MDDGA4

Fukuyama Type Congenital Muscular Dystrophy

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

Cerebromuscular Dystrophy, Fukuyama Type

Fukuyama Cmd

Fukuyama Muscular Dystrophy

Fukuyama Syndrome

Muscular Dystrophy, Congenital Progressive, With Mental Retardation

Muscular Dystrophy, Congenital, Fukuyama Type

Muscular Dystrophy, Congenital, With Central Nervous System Involvement

Polymicrogyria With Muscular Dystrophy

Congenital Muscular Dystrophy, Fukuyama Type

Fktn-Related Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

Cerebromuscular Dystrophy Fukuyama Type

Congenital Muscular Dystrophy Fukuyama Type

Micropolygyria With Muscular Dystrophy

Muscle-Eye-Brain Disease Fktn-Related

Walker-Warburg Syndrome Fktn-Related
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12

Mddga12

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome

AMS

Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies

Eye Abnormalities
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone
Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy

Congenital Muscular Dystrophy Due To Dystroglycanopathy

Mddg

Dystrophy, Muscular, Dystroglycanopathy
Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy
Substernal Goiter

Retrosternal Thyroid Goiter

Retrosternal Thyroid Goitre

Substernal Goitre

Goiter, Substernal
Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MDDGB1

Muscular Dystrophy-Dystroglycanopathy , Type B1

Muscular Dystrophy, Congenital, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy Type B1

Cmd Due To Dystroglycanopathy

Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1

Muscular Dystrophy Congenital Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy

Dystrophy, Muscular, Dystroglycanopathy , Type B1
Cardiomyopathy, Dilated, 1kk

Cardiomyopathy, Familial Restrictive, 4

Dilated Cardiomyopathy 1kk

CMD1KK

Cardiomyopathy, Hypertrophic, 22

Cardiomyopathy, Dilated 1kk

Cardiomyopathy, Familial Hypertrophic 22

CMH22

Cardiomyopathy, Familial Restrictive 4

RCM4

Familial Hypertrophic Cardiomyopathy 22

Cardiomyopathy, Dilated, Type 1kk

Cardiomyopathy, Familial Hypertrophic, 22
Cardiomyopathy, Familial Hypertrophic, 9

Hypertrophic Cardiomyopathy 9

CMH9

Cardiomyopathy, Familial Hypertrophic 9

Cardiomyopathy, Hypertrophic, Familial, Type 9
Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

Mddga

Klissencephaly Type 2 With Muscular And Ocular Involvement

Lissencephaly Type 2 With Muscular And Ocular Involvement
Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2
Lassa Fever

Lf

Lassa Hemorrhagic Fever

Lf - [Lassa Fever]
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-RS07524 LARGE1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LARGE1 RGD RGD:1308895
Macaca mulatta LARGE1 VGNC VGNC:74236
Mus musculus LARGE1 MGD MGI:1342270
Canis familiaris LARGE1 VGNC VGNC:42585
Felis catus LARGE1 VGNC VGNC:68019
Bos taurus LARGE1 VGNC VGNC:54444