1. Gene
  2. EXT1 - exostosin glycosyltransferase 1 Gene

EXT1 - exostosin glycosyltransferase 1 Gene

Homo sapiens

Also known as EXT; LGS; TTV; LGCR; TRPS2

Gene ID: 2131 | Gene type: protein coding

About EXT1

Cytogenetic location: 8q24.11 Genomic coordinates (GRCh38): 8:117,794,490-118,111,826 (from NCBI)

This gene has 5 transcripts (splice variants), 268 orthologues, 4 paralogues and is associated with 82 phenotypes. Ubiquitous expression in duodenum (RPKM 18.7), small intestine (RPKM 16.2) and 25 other tissues.

Summary

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]

EXT1 Products(1)

mRNA Protein Name
NM_000127.3 NP_000118.2 exostosin-1

EXT1 Protein Structure

Exostosin

Exostosin: Exostosin family (111 - 396)

Glyco_transf_64

Glyco_transf_64: Glycosyl transferase family 64 domain (480 - 729)

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  • 746 a.a.
Protein Preferred Names Protein Names

exostosin-1

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase

Related Diseases

Diseases Alias
Exostoses, Multiple, Type I

Exostoses, Multiple, Type 1

EXT1

Multiple Cartilaginous Exostoses

Diaphyseal Aclasis

Multiple Osteochondromas

Osteochondromatosis

Hereditary Multiple Exostoses

Bessel-Hagen Disease

Exostoses, Multiple

Ext

Hereditary Multiple Osteochondromas

Hmo

Hereditary Multiple Exostosis

Multiple Exostoses

Hereditary Multiple Exostoses 1

Osteochondromas, Multiple

Enchondromatosis

Glucuronyltransferase/N-Acetylglucosaminyltransferase Deficiency

Ext1/Ext2-Cdg

Multiple Congenital Exostoses

Chondrosarcoma

Cartilaginous Cancer

Chondrosarcoma Of Bone

Primary Chondrosarcoma Of The Bone

CHDSA

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome

Lgs

Trichorhinophalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome Type 2

TRPS2

Monosomy 8q24.1

Chromosome 8q24.1 Deletion Syndrome

Deletion 8q24.1

Giedion-Langer Syndrome

Trichorhinophalangeal Dysplasia Type Ii

Langer Giedion Syndrome

Trps 2

Tricho-Rhino-Phalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome With Exostosis

Trps Ii

Tricho-Rhino-Phalangeal Syndrome 2

8q24.1 Microdeletion Syndrome

8q24.1 Deletion Syndrome

Hereditary Multiple Exostoses

Multiple Congenital Exostosis

Hereditary Multiple Exostoses 1

Hereditary Multiple Exostoses 2

Hereditary Multiple Exostoses 3

Multiple Exostosis Syndromes

Multiple Ostechondromas

Osteochondromatosis Syndrome

Exostoses Multiple Hereditary

Exostoses, Multiple Hereditary

Hereditary Multiple Osteochondromas

Hereditary Multiple Exostoses

Diaphyseal Aclasis

Multiple Cartilaginous Exostoses

Multiple Hereditary Exostoses

Bessel-Hagen Disease

Exostoses, Multiple Hereditary

Familial Exostoses

Multiple Congenital Exostosis

Multiple Osteochondromas

Multiple Osteochondromatosis

Osteochondromatosis

Exostosis

Osteophyte

Exostoses

Orbital Exostosis

Exostosis Of Orbit

Bone Spur

Bony Outgrowth

Swimmer'S Exostosis

Osteophytes

External Exotoses

Cartilaginous Exostosis

Osteochondroma

Cartilaginous Exostosis

Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

Trichorhinophalangeal Syndrome

Tricho-Rhino-Phalangeal Syndrome

Trps

Osteopoikilosis

Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata

Metachondromatosis

METCDS

MC

Trichorhinophalangeal Syndrome, Type I

Trichorhinophalangeal Dysplasia Type I

TRPS1

Trichorhinophalangeal Syndrome Type I

Trps I

Trichorhinophalangeal Syndrome Type 1

Type I Trichorhinophalangeal Syndrome

Giedion Syndrome

Trp Syndrome

Tricho-Rhino-Phalangeal Syndrome 1

Trichorhinophalangeal Syndrome, Type Iii

Enchondromatosis, Multiple, Ollier Type

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Multiple Cartilaginous Enchondroses

Multiple Enchondromatosis

Enchondromatosis With Haemangiomata

Enchondromatosis, Multiple

Kast'S Syndrome

Ollier'S Syndrome

Enchondromatosis Multiple

ENCHOM

Maffucci Disease

Olliers Disease

Hereditary Multiple Exostoses

Chondromatosis

Ankylosing Spondylitis 3
Periosteal Chondrosarcoma

Juxtacortical Chondrosarcoma

Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfout-De Vries Syndrome

VSVS

Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures

Iddisbas

Mrd24

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24

Trichorhinophalangeal Syndrome, Type Iii

Trichorhinophalangeal Syndrome Type Iii

TRPS3

Sugio-Kajii Syndrome

Trichorhinophalangeal Syndrome Type 3

Trps 3

Tricho-Rhino-Phalangeal Syndrome 3

Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome

Chondrodysplasia With Hemangioma

Chondroplasia Angiomatosis

Enchondromatosis With Hemangiomata

Hemangiomatosis Chondrodystrophica

Kast Syndrome

Multiple Angiomas And Endochondromas

Dyschondrodysplasia With Hemangiomas

Enchondromatosis Type Ii

Enchondromatosis With Multiple Cavernous Hemangiomas

Dyschondroplasia And Cavernous Hemangioma

Hemangiomata With Dyschondroplasia

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Periosteal Osteogenic Sarcoma

Periosteal Osteosarcoma

Parosteal Osteosarcoma

Juxtacortical Chondroma

Periosteal Chondroma

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4

CDLS4

Cornelia De Lange Syndrome, Type 4

Hypertrichosis
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

CMTX3

Charcot-Marie-Tooth Disease X-Linked Recessive 3

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3

Cmt3x

X-Linked Charcot-Marie-Tooth Disease Type 3

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3

Charcot-Marie-Tooth Disease, X-Linked Type 3, Recessive

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

CMTX2

Charcot-Marie-Tooth Disease X-Linked Recessive 2

X-Linked Charcot-Marie-Tooth Disease Type 2

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2

Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

Bone Sarcoma
Larsen Syndrome

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome

Brachydactyly
Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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

Orthologs Information

Species Symbol Source ID
Canis familiaris EXT1 VGNC VGNC:40531
Mus musculus EXT1 MGD MGI:894663
Macaca mulatta EXT1 VGNC VGNC:72448
Rattus norvegicus EXT1 RGD RGD:1587375
Bos taurus EXT1 VGNC VGNC:28665