1. Gene
  2. CHST6 - carbohydrate sulfotransferase 6 Gene

CHST6 - carbohydrate sulfotransferase 6 Gene

Homo sapiens

Also known as MCDC1; gn6st-5; hCGn6ST; GST4-beta; C-GlcNAc6ST; glcNAc6ST-5

Gene ID: 4166 | Gene type: protein coding

About CHST6

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,472,042-75,495,441 (from NCBI)

This gene has 4 transcripts (splice variants), 79 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 2.4), adrenal (RPKM 0.7) and 12 other tissues.

Summary

The protein encoded by this gene is an Enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]

CHST6 Products(1)

mRNA Protein Name
NM_021615.5 NP_067628.1 carbohydrate sulfotransferase 6 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables N-acetylglucosamine 6-O-sulfotransferase activity IDA
IDA: Inferred from direct assay
11278593 GOA
enables keratan sulfotransferase activity IDA
IDA: Inferred from direct assay
17690104 GOA
Biological Process GO Annotation Evidence Reference Source
involved in N-acetylglucosamine metabolic process IDA
IDA: Inferred from direct assay
11352640 GOA
involved in keratan sulfate biosynthetic process IDA
IDA: Inferred from direct assay
11278593 GOA
involved in sulfur compound metabolic process IDA
IDA: Inferred from direct assay
11352640 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHST6 Protein Structure

Sulfotransfer_1

Sulfotransfer_1: Sulfotransferase domain (42 - 356)

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

carbohydrate sulfotransferase 6

N-acetylglucosamine 6-O-sulfotransferase 5

Related Diseases

Diseases Alias
Macular Dystrophy, Corneal

Macular Corneal Dystrophy

MCD

Corneal Dystrophy, Macular Type

Groenouw Type Ii Corneal Dystrophy

Fehr Corneal Dystrophy

Macular Dystrophy, Corneal Type 1

Mcdc1

Macular Corneal Dystrophy Type Ii

Macular Corneal Dystrophy, Type Ii

Macular Corneal Dystrophy, Type I

Mcdc1, Formerly

Macular Dystrophy, Corneal, 1

Macular Corneal Dystrophy Type 1

Corneal Dystrophy Groenouw Type Ii

Corneal Dystrophy Macular Type

Macular Corneal Dystrophy Type I

Dystrophy, Macular, Corneal

Corneal Dystrophy
Stromal Dystrophy
Corneal Disease

Corneal Diseases

Corneal Disorders

Corneal Deposit

Deposits - Cornea

Granular Corneal Dystrophy

Granular Dystrophy Corneal

Corneal Dystrophies, Hereditary

Hereditary Corneal Dystrophy

Corneal Dystrophy Nos

Familial Hereditary Corneal Degeneration

Hereditary Corneal Opacity

Corneal Dystrophy, Thiel-Behnke Type

Thiel-Behnke Corneal Dystrophy

Tbcd

CDTB

Cdb2

Corneal Dystrophy Of Bowman Layer Type Ii

Anterior Limiting Membrane Dystrophy Type Ii

Waardenburg-Jonker Corneal Dystrophy

Corneal Dystrophy Of Bowman Layer, Type Ii

Corneal Dystrophy, Honeycomb-Shaped

Corneal Dystrophy Honeycomb-Shaped

Corneal Dystrophy Thiel Behnke Type

Corneal Dystrophy Honeycomb Shaped

Corneal Dystrophy Of The Bowman Layer Type 2

Thiel Behnke Corneal Dystrophy

Anterior Limiting Membrane Dystrophy Type 2

Corneal Dystrophy Of Bowman Layer Type 2

Curly Fiber Corneal Dystrophy

Honeycomb Corneal Dystrophy

Honeycomb-Shaped Corneal Dystrophy

Dystrophy, Corneal, Thiel-Behnke Type

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy

CDA

Combined Granular-Lattice Corneal Dystrophy

Cgd2

Granular Corneal Dystrophy Type 2

Acd

Granular Corneal Dystrophy 2

Corneal Dystrophy Avellino Type

Granular Corneal Dystrophy Type Ii

Granular Corneal Dystrophy, Type Ii

Combined Granular-Lattice Corneal Dystrophies

Granular And Lattice Corneal Dystrophies

Granular-Lattice Corneal Dystrophy

Gcd2

Gcdii

Granular-Lattice Corneal Dystrophy

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea

Chandler Syndrome

CHED

Chandler'S Syndrome

Endothelial Corneal Dystrophy

Ched2

Maumenee Corneal Dystrophy

Corneal Dystrophy, Congenital Hereditary Endothelial

Dystrophy Of Corneal Endothelium

Corneal Endothelial Dystrophy 2

Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

Ched2, Formerly

Corneal Endothelial Dystrophy, Autosomal Recessive

Endothelial Dystrophy

Posterior Membrane Corneal Dystrophy

Corneal Endothelial Dystrophy Type 2

Congenital Hereditary Endothelial Dystrophy Of The Cornea

Congenital Hereditary Endothelial Dystrophy Type Ii

Autosomal Recessive Ched

Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

Chedii

Congenital Hereditary Endothelial Dystrophy Type 2

Infantile Hereditary Endothelial Dystrophy

Congenital Hereditary Endothelial Corneal Dystrophy

Corneal Endothelial Dystrophy 2, Autosomal Recessive

Iridocorneal Endothelial Syndrome

Dystrophy, Corneal, Endothelial

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Corneal Dystrophy, Reis-Bucklers Type

Reis-Bucklers Corneal Dystrophy

Rbcd

CDRB

Cdb1

Corneal Dystrophy Of Bowman Layer Type I

Geographic Corneal Dystrophy

Granular Corneal Dystrophy Type Iii

Reis-Bucklers' Corneal Dystrophy

Anterior Limiting Membrane Dystrophy Type I

Corneal Dystrophy Of Bowman Layer Type 1

Corneal Dystrophy Of Bowman Layer, Type I

Corneal Dystrophy, Geographic

Granular Corneal Dystrophy, Type Iii

Corneal Dystrophy Reis Bucklers Type

Corneal Dystrophy Geographic

Reis Bucklers Corneal Dystrophy

Reis Bucklers Dystrophy

Anterior Limiting Membrane Dystrophy Type 1

Atypical Granular Corneal Dystrophy

Granular Corneal Dystrophy Type 3

Superficial Granular Corneal Dystrophy

Corneal Dystrophy Of Bowman Layer, Type 1

Dystrophy, Corneal, Reis-Bucklers Type

Epithelial Basement Membrane Dystrophy

Ebmd

Corneal Dystrophy, Epithelial Basement Membrane

Cogan Corneal Dystrophy

Microcystic Corneal Dystrophy

Anterior Basement Membrane Dystrophy

Cogan Microcystic Epithelial Dystrophy

Map-Dot-Fingerprint Dystrophy

Microscopic Cystic Corneal Dystrophy

Epithelial-Stromal Tgfbi Dystrophy
Corneal Dystrophy, Gelatinous Drop-Like

Gelatinous Drop-Like Corneal Dystrophy

GDLD

Cdgdl

Corneal Amyloidosis

Lattice Corneal Dystrophy Type Iii

Amyloidosis, Corneal

Amyloid Corneal Dystrophy, Japanese Type

Gdcd

Primary Familial Amyloidosis Of The Cornea

Subepithelial Amyloidosis Of The Cornea

Corneal Dystrophy, Lattice Type 3

Corneal Dystrophy, Lattice Type Iii

Lattice Corneal Dystrophy, Type Iii

Amyloidosis Corneal

Lattice Corneal Dystrophy Type3

Amyloid Corneal Dystrophy Japanese Type

Dystrophy, Corneal, Gelatinous Drop-Like

Amyloid Of Cornea

Epithelial And Subepithelial Dystrophy
Corneal Dystrophy, Groenouw Type I

CDGG1

Gcd1

Groenouw Corneal Dystrophy Type I

Granular Corneal Dystrophy 1

Granular Corneal Dystrophy Type I

Corneal Dystrophy Groenouw Type I

Granular Corneal Dystrophy, Type I

Corneal Dystrophy, Punctate Or Nodular

Groenouw Type I Corneal Dystrophy

Corneal Dystrophy Granular Type

Corneal Dystrophy Punctate Or Nodular

Classic Gcd

Classic Granular Corneal Dystrophy

Gcdi

Granular Corneal Dystrophy Type 1

Corneal Dystrophy, Groenouw Type 1

Mesh

D003317

Punctate Or Nodular Corneal Dystrophy

Dystrophy, Corneal, Groenouw Type I

Corneal Dystrophy, Meesmann, 1

Meesmann Corneal Dystrophy

Mecd

Corneal Dystrophy, Meesmann Epithelial

Juvenile Hereditary Epithelial Dystrophy

Corneal Dystrophy, Juvenile Epithelial Of Meesmann

MECD1

Meesmann Corneal Dystrophy 1

Meesmann Corneal Epithelial Dystrophy

Meesmann Epithelial Corneal Dystrophy

Corneal Dystrophy, Juvenile Epithelial, Of Meesmann

Stocker-Holt Dystrophy

Meesman Dystrophy

Meesman'S Corneal Dystrophy

Juvenile Hereditary Epithelial Dystrophy Of Meesmann

Corneal Dystrophy, Meesmann 1

Juvenile Epithelial Corneal Dystrophy Of Meesmann

Mcd

Dystrophy, Corneal, Meesmann

Corneal Dystrophy, Lisch Epithelial

Lisch Epithelial Corneal Dystrophy

LECD

Band-Shaped And Whorled Microcystic Corneal Epithelial Dystrophy

Band-Shaped And Whorled Microcystic

Band-Shaped And Whorled Microcystic Dystrophy Of The Corneal Epithelium

Recurrent Corneal Erosion

Recurrent Erosion Of Cornea

Recurrent Erosion Syndrome

Corneal Erosion

Non-Traumatic Recurrent Erosion Of Cornea

Interstitial Keratitis
Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Ehlers-Danlos Syndrome, Musculocontractural Type 1

EDSMC1

Edsmc

Adducted Thumb-Clubfoot Syndrome

Atcs

Dundar Syndrome

Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis

Ehlers-Danlos Syndrome Musculocontractural Type 1

Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome

Ehlers-Danlos Syndrome, Type Vib, Formerly

Eds6b, Formerly

Adducted Thumbs-Arthrogryposis Dundar Type

Arthrogryposis Distal With Peculiar Facies And Hydronephrosis

Eds6b Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Ehlers-Danlos, Musculocontractural Syndrome, Type 1

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

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

Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Corneal Degeneration

Degenerative Corneal Opacity

Tyrosinemia, Type Ii

Tyrosinemia Type Ii

Oculocutaneous Tyrosinemia

Richner-Hanhart Syndrome

Tyrosine Aminotransferase Deficiency

Tat Deficiency

Tyrosine Transaminase Deficiency

Keratosis Palmoplantaris With Corneal Dystrophy

TYRSN2

Oregon Type Tyrosinemia

Tyrosinemia Type 2

Tyrosinosis Oculocutaneous Type

Tyrosinosis, Oculocutaneous Type

Richner Hanhart Syndrome

Keratosis Palmoplantaris-Corneal Dystrophy Syndrome

Tyrosinemia Due To Tat Deficiency

Tyrosinemia Due To Tyrosine Aminotransferase Deficiency

Tyrosinemia 2

Tyrosinemia Oregon Type

Tyrosine Transaminase Deficiency Disease

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy

SCCD

Corneal Dystrophy, Crystalline, Of Schnyder

Corneal Dystrophy, Schnyder Type

Corneal Dystrophy Crystalline Of Schnyder

Crystalline Stromal Dystrophy

Hereditary Crystalline Stromal Dystrophy Of Schnyder

Scd

Corneal Dystrophy, Schnyder

Schnyder Crystalline Dystrophy Sine Crystals

Dystrophy, Corneal, Crystalline, Schnyder

Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome

Epithelial Recurrent Erosion Dystrophy

ERED

Corneal Erosions, Recurring Hereditary

Col17a1

Dystrophia Helsinglandica

Dystrophia Smolandiensis

Recurrent Hereditary Corneal Erosions

Rces

Recurrent Corneal Erosion Syndrome

Recurrent Erosion Of Cornea

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1

Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy

Fcd

CFD

Corneal Fleck Dystrophy

Francois-Neetens Speckled Corneal Dystrophy

Corneal Dystrophy, Francois-Neetens Speckled Or Flecked

Corneal Dystrophy Francois-Neetens Speckled Or Flecked

Dystrophy, Corneal, Fleck

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
Mus musculus CHST6 MGD MGI:1931825
Rattus norvegicus CHST6 RGD RGD:1561144
Macaca mulatta CHST6 VGNC VGNC:71157