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CHST3 Gene(Protein Coding)

Carbohydrate Sulfotransferase 3

GCID:
GC10P071964
GIFtS:
59
Genes Participants
UDN Logo

Aliases for CHST3 Gene

Aliases for CHST3 Gene

  • Carbohydrate Sulfotransferase 3 2 3 5
  • Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 0 3 4
  • Carbohydrate (Chondroitin 6) Sulfotransferase 3 2 3
  • Chondroitin 6-O-Sulfotransferase 1 3 4
  • Chondroitin 6 Sulfotransferase 1 2 3
  • EC 2.8.2.17 4 61
  • C6ST-1 3 4
  • GST-0 3 4
  • Chondroitin 6-Sulfotransferase 4
  • EC 2.8.2 61
  • C6ST1 3
  • C6ST 3
  • HSD 3

External Ids for CHST3 Gene

Previous GeneCards Identifiers for CHST3 Gene

  • GC10P072502
  • GC10P072827
  • GC10P073616
  • GC10P073068
  • GC10P073394
  • GC10P073724
  • GC10P067718

Summaries for CHST3 Gene

Entrez Gene Summary for CHST3 Gene

  • This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

GeneCards Summary for CHST3 Gene

CHST3 (Carbohydrate Sulfotransferase 3) is a Protein Coding gene. Diseases associated with CHST3 include Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations and Larsen Syndrome, Autosomal Recessive. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include sulfotransferase activity and chondroitin 6-sulfotransferase activity. An important paralog of this gene is CHST1.

UniProtKB/Swiss-Prot for CHST3 Gene

  • Sulfotransferase that utilizes 3-phospho-5-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST3 Gene

Genomics for CHST3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CHST3 Gene

Enhancers for CHST3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G071984 2 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +21.8 21827 4.0 CREB3L1 MLX DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 SSRP1 SPOCK2 CHST3 C10orf105 ENSG00000272988
GH10G071968 1.7 Ensembl ENCODE dbSUPER 10.5 +11.7 11691 14.9 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 SPOCK2 CHST3 PSAP NPM1P24 ENSG00000272988
GH10G072689 1.7 FANTOM5 Ensembl ENCODE 10.1 +727.2 727245 4.8 HDGF FOXA2 PKNOX1 CREB3L1 ARID4B SIN3A YBX1 FEZF1 YY1 SLC30A9 DNAJB12 MICU1 CHST3 MCU ENSG00000201881 GC10M072655
GH10G071376 1.6 Ensembl ENCODE dbSUPER 10.1 -586.1 -586061 4.3 HDGF FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 SLC29A3 CHST3 PIR36739 ENSG00000279406
GH10G072029 1.6 FANTOM5 ENCODE dbSUPER 9.9 +66.6 66630 3.6 PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 ZNF121 SP5 ZHX2 SPOCK2 CHST3 ENSG00000272988
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHST3 on UCSC Golden Path with GeneCards custom track

Promoters for CHST3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029643 338 1801 ZFP64 ARID4B ZNF2 ETS1 GLIS2 FOS ZNF263 SP3 SP5 REST

Transcription factor binding sites by QIAGEN in the CHST3 gene promoter:

Genomic Location for CHST3 Gene

Chromosome:
10
Start:
71,964,362 bp from pter
End:
72,013,564 bp from pter
Size:
49,203 bases
Orientation:
Plus strand

Genomic View for CHST3 Gene

Genes around CHST3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHST3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHST3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHST3 Gene

Proteins for CHST3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CHST3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7LGC8-CHST3_HUMAN
    Recommended name:
    Carbohydrate sulfotransferase 3
    Protein Accession:
    Q7LGC8
    Secondary Accessions:
    • O75099
    • Q52M30

    Protein attributes for CHST3 Gene

    Size:
    479 amino acids
    Molecular mass:
    54706 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHST3 Gene

Protein Expression for CHST3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CHST3 Gene

Q7LGC8:
  • EVQRLRGNCE
  • YMLVRYED
  • LLMATTRTGSSFVGEFFNQ
  • SSEQFEKWR
  • GSALVYRDVL
  • LVRDPRAV
  • IFYLFEPLWH

Post-translational modifications for CHST3 Gene

  • Glycosylation at posLast=6363, Asn74, posLast=9696, Asn256, posLast=420420, and posLast=464464
  • Modification sites at PhosphoSitePlus

Other Protein References for CHST3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CHST3 (Carbohydrate Sulfotransferase 3/CHST3)
  • Abcam antibodies for CHST3

Domains & Families for CHST3 Gene

Gene Families for CHST3 Gene

HGNC:

Protein Domains for CHST3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHST3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7LGC8

UniProtKB/Swiss-Prot:

CHST3_HUMAN :
  • Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
Family:
  • Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
genes like me logo Genes that share domains with CHST3: view

Function for CHST3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CHST3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-phosphoadenylyl sulfate + chondroitin = adenosine 3,5-bisphosphate + chondroitin 6-sulfate.
UniProtKB/Swiss-Prot Function:
Sulfotransferase that utilizes 3-phospho-5-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.

Enzyme Numbers (IUBMB) for CHST3 Gene

Gene Ontology (GO) - Molecular Function for CHST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity IBA --
GO:0008146 sulfotransferase activity TAS 9883891
GO:0008459 chondroitin 6-sulfotransferase activity TAS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with CHST3: view
genes like me logo Genes that share phenotypes with CHST3: view

Human Phenotype Ontology for CHST3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHST3 Gene

MGI Knock Outs for CHST3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CHST3 Gene

Localization for CHST3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHST3 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHST3 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
extracellular 2
plasma membrane 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CHST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with CHST3: view

Pathways & Interactions for CHST3 Gene

genes like me logo Genes that share pathways with CHST3: view

Gene Ontology (GO) - Biological Process for CHST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006790 sulfur compound metabolic process IDA 9883891
GO:0030206 chondroitin sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with CHST3: view

No data available for SIGNOR curated interactions for CHST3 Gene

Drugs & Compounds for CHST3 Gene

Products:

  1. Drug

(4) Drugs for CHST3 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1967
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, Immunomodulatory agents, TNF-alpha synthesis inhibitor 1142
Chondroitin Nutra 44

(12) Additional Compounds for CHST3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
 1053-73-2
Chondroitin 6'-sulfate
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
 69992-87-6
n-acetyllactosamine
  • beta-D-Galactosyl-1,4-N-acetyl-beta-D-glucosamine
  • beta-D-Galactosyl-1,4-N-acetyl-D-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-beta-delta-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-delta-glucosamine
  • D-Galactopyranosyl
 32181-59-2
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
 482-67-7
genes like me logo Genes that share compounds with CHST3: view

Transcripts for CHST3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CHST3 Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(126) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHST3 Gene

Carbohydrate (chondroitin 6) sulfotransferase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHST3 Gene

No ASD Table

Relevant External Links for CHST3 Gene

GeneLoc Exon Structure for
CHST3
ECgene alternative splicing isoforms for
CHST3

Expression for CHST3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHST3 Gene

mRNA expression in normal human tissues for CHST3 Gene
mRNA expression by BioGPS for CHST3 GenemRNA expression by GTEx for CHST3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHST3 Gene

This gene is overexpressed in Monocytes (25.9), Colon muscle (17.2), Testis (14.5), and Platelet (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHST3 Gene



Protein tissue co-expression partners for CHST3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHST3 Gene:

CHST3

SOURCE GeneReport for Unigene cluster for CHST3 Gene:

Hs.158304

mRNA Expression by UniProt/SwissProt for CHST3 Gene:

Q7LGC8-CHST3_HUMAN
Tissue specificity: Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix.

Evidence on tissue expression from TISSUES for CHST3 Gene

  • Nervous system(4.6)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHST3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tooth
Thorax:
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CHST3: view

Primer Products

No data available for mRNA differential expression in normal tissues for CHST3 Gene

Orthologs for CHST3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHST3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CHST3 34 35
  • 99.79 (n)
dog
(Canis familiaris)
 Mammalia CHST3 34 35
  • 90.08 (n)
cow
(Bos Taurus)
 Mammalia CHST3 34 35
  • 87.11 (n)
rat
(Rattus norvegicus)
 Mammalia Chst3 34
  • 86.08 (n)
oppossum
(Monodelphis domestica)
 Mammalia CHST3 35
  • 86 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Chst3 34 16 35
  • 85.17 (n)
chicken
(Gallus gallus)
 Aves CHST3 34 35
  • 80.27 (n)
lizard
(Anolis carolinensis)
 Reptilia CHST3 35
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia chst3 34
  • 65.65 (n)
zebrafish
(Danio rerio)
 Actinopterygii chst3b 34 35
  • 69.66 (n)
chst3a 35
  • 58 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG9550 35
  • 20 (a)
 ManyToMany
CG31637 35
  • 18 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 35 (a)
 ManyToMany
-- 35
  • 29 (a)
 ManyToMany
-- 35
  • 28 (a)
 ManyToMany
-- 35
  • 23 (a)
 ManyToMany
-- 35
  • 22 (a)
 ManyToMany
-- 35
  • 22 (a)
 ManyToMany
CSA.5535 35
  • 21 (a)
 ManyToMany
-- 35
  • 20 (a)
 ManyToMany
Species where no ortholog for CHST3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CHST3 Gene

ENSEMBL:
Gene Tree for CHST3 (if available)
TreeFam:
Gene Tree for CHST3 (if available)

Paralogs for CHST3 Gene

Paralogs for CHST3 Gene

(4) SIMAP similar genes for CHST3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHST3: view

Variants for CHST3 Gene

Sequence variations from dbSNP and Humsavar for CHST3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121908616 Pathogenic, Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] 72,007,807(+) GACGC(C/T)GGCCG reference, missense
rs121908617 Pathogenic, Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] 72,007,695(+) TCCGC(C/T)GGGGC reference, missense
rs121908618 Pathogenic, Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] 72,007,951(+) CGTGC(C/T)GGCCT reference, missense
rs267606734 Pathogenic, Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] 72,008,145(+) GCTAC(A/G)AGGAC reference, missense
rs28937593 Pathogenic, Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] 72,007,942(+) CCCCC(A/G)GGCCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CHST3 Gene

Variant ID Type Subtype PubMed ID
dgv1263n54 CNV loss 21841781
esv3623787 CNV loss 21293372
nsv1122538 CNV deletion 24896259
nsv551509 CNV loss 21841781
nsv551512 CNV loss 21841781
nsv7110 CNV insertion 18451855
nsv820285 CNV loss 19587683

Variation tolerance for CHST3 Gene

Residual Variation Intolerance Score: 31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.06; 84.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHST3 Gene

Human Gene Mutation Database (HGMD)
CHST3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHST3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST3 Gene

Disorders for CHST3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CHST3 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloepiphyseal dysplasia with congenital joint dislocations
  • chondrodysplasia with multiple dislocations
larsen syndrome, autosomal recessive
larsen syndrome
  • dominant larsen syndrome
dysostosis
  • dysostoses
desbuquois dysplasia
  • desbuquois syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CHST3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHST3_HUMAN
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. {ECO:0000269 PubMed:15215498, ECO:0000269 PubMed:18513679}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHST3

Genetic Association Database (GAD)
CHST3
Human Genome Epidemiology (HuGE) Navigator
CHST3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHST3
genes like me logo Genes that share disorders with CHST3: view

No data available for Genatlas for CHST3 Gene

Publications for CHST3 Gene

  1. Molecular cloning and expression of human chondroitin 6- sulfotransferase. (PMID: 9714738) Fukuta M. … Habuchi O. (Biochim. Biophys. Acta 1998) 2 3 4 22 64
  2. Functional expression and genomic structure of human chondroitin 6- sulfotransferase. (PMID: 9883891) Tsutsumi K. … Sugahara K. (FEBS Lett. 1998) 2 3 4 22 64
  3. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (PMID: 18513679) Hermanns P. … Superti-Furga A. (Am. J. Hum. Genet. 2008) 3 4 22 64
  4. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. (PMID: 15215498) Thiele H. … Mundlos S. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  5. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. (PMID: 19320654) Tuysuz B. … Turkmen S. (Clin. Genet. 2009) 3 22 64

Products for CHST3 Gene

Sources for CHST3 Gene

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