Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHSY1 Gene

Aliases for CHSY1 Gene

  • Chondroitin Sulfate Synthase 1 2 3 5
  • Glucuronosyl-N-Acetylgalactosaminyl-Proteoglycan 4-Beta-N-Acetylgalactosaminyltransferase 1 3 4
  • N-Acetylgalactosaminyl-Proteoglycan 3-Beta-Glucuronosyltransferase 1 3 4
  • Chondroitin Glucuronyltransferase 1 3 4
  • Chondroitin Synthase 1 3 4
  • ChSy-1 3 4
  • CSS1 3 4
  • CHSY 3 4
  • Carbohydrate (Chondroitin) Synthase 1 2
  • N-Acetylgalactosaminyltransferase II 3
  • Chondroitin Glucuronyltransferase II 3
  • N-Acetylgalactosaminyltransferase 1 4
  • Carbohydrate Synthase 1 3
  • EC 4
  • EC 4
  • KIAA0990 4
  • TPBS 3

External Ids for CHSY1 Gene

Previous GeneCards Identifiers for CHSY1 Gene

  • GC15M098567
  • GC15M095557
  • GC15M099308
  • GC15M099451
  • GC15M099533
  • GC15M101715
  • GC15M077838

Summaries for CHSY1 Gene

Entrez Gene Summary for CHSY1 Gene

  • This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]

GeneCards Summary for CHSY1 Gene

CHSY1 (Chondroitin Sulfate Synthase 1) is a Protein Coding gene. Diseases associated with CHSY1 include Temtamy Preaxial Brachydactyly Syndrome and Brachydactyly. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include transferase activity, transferring glycosyl groups and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CHSY3.

UniProtKB/Swiss-Prot for CHSY1 Gene

  • Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.

Gene Wiki entry for CHSY1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHSY1 Gene

Genomics for CHSY1 Gene

Regulatory Elements for CHSY1 Gene

Enhancers for CHSY1 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
GH15G101197 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.2 +47.7 47690 14.3 HDGF PKNOX1 FOXA2 SIN3A FEZF1 CBX5 ZNF143 FOS ZNF263 SP3 CHSY1 TM2D3 GC15M101194 PIR58100
GH15G101182 2 FANTOM5 Ensembl ENCODE dbSUPER 25.1 +63.0 63019 13.8 PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CHSY1 PRKXP1 LOC100419174 ASB7 TM2D3 CERS3-AS1 ENSG00000270127 PIR58100 GC15M101194
GH15G101120 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.6 +126.8 126838 8.5 HDGF PKNOX1 FEZF1 ZNF2 ZNF48 BRCA1 ZNF121 FOS ZNF263 JUNB CHSY1 LRRK1 ENSG00000259365 LOC105371026
GH15G101166 1.5 Ensembl ENCODE dbSUPER 20.7 +82.1 82123 6.5 HDGF PKNOX1 ATF1 ARNT SIN3A TCF12 GATA2 FOS ZNF263 SP5 CHSY1 ENSG00000259182 PIR58100
GH15G101175 1.3 Ensembl ENCODE dbSUPER 23.6 +73.8 73755 6.4 SOX13 JUN MAX CEBPG FEZF1 BRCA1 TEAD3 GATA2 ZSCAN5C MAFK CHSY1 PIR58100 ENSG00000259182
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHSY1 on UCSC Golden Path with GeneCards custom track

Promoters for CHSY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082014 332 2801 MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF143

Genomic Location for CHSY1 Gene

101,175,723 bp from pter
101,251,932 bp from pter
76,210 bases
Minus strand

Genomic View for CHSY1 Gene

Genes around CHSY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHSY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHSY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHSY1 Gene

Proteins for CHSY1 Gene

  • Protein details for CHSY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Chondroitin sulfate synthase 1
    Protein Accession:
    Secondary Accessions:
    • Q6UX38
    • Q7LFU5
    • Q9Y2J5

    Protein attributes for CHSY1 Gene

    802 amino acids
    Molecular mass:
    91784 Da
    Name=Co(2+); Xref=ChEBI:CHEBI:48828; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Cd(2+); Xref=ChEBI:CHEBI:48775;
    Quaternary structure:
    • Binds CHPF.
    • Sequence=BAA76834.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CHSY1 Gene

Post-translational modifications for CHSY1 Gene

  • Glycosylation at posLast=189189, posLast=623623, posLast=769769, and Asn796
  • Modification sites at PhosphoSitePlus

Other Protein References for CHSY1 Gene

No data available for DME Specific Peptides for CHSY1 Gene

Domains & Families for CHSY1 Gene

Protein Domains for CHSY1 Gene

Suggested Antigen Peptide Sequences for CHSY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
genes like me logo Genes that share domains with CHSY1: view

Function for CHSY1 Gene

Molecular function for CHSY1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.
UniProtKB/Swiss-Prot Function:
Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.

Enzyme Numbers (IUBMB) for CHSY1 Gene

Gene Ontology (GO) - Molecular Function for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008376 acetylgalactosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity TAS --
genes like me logo Genes that share ontologies with CHSY1: view
genes like me logo Genes that share phenotypes with CHSY1: view

Human Phenotype Ontology for CHSY1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHSY1 Gene

MGI Knock Outs for CHSY1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHSY1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CHSY1 Gene

Localization for CHSY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHSY1 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted.

Subcellular locations from

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 CHSY1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA,IDA 21129727
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHSY1: view

Pathways & Interactions for CHSY1 Gene

genes like me logo Genes that share pathways with CHSY1: view

Gene Ontology (GO) - Biological Process for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002063 chondrocyte development IEA --
GO:0009954 proximal/distal pattern formation IEA --
GO:0030206 chondroitin sulfate biosynthetic process TAS --
GO:0030279 negative regulation of ossification IMP 21129727
GO:0031667 response to nutrient levels IEA --
genes like me logo Genes that share ontologies with CHSY1: view

No data available for SIGNOR curated interactions for CHSY1 Gene

Drugs & Compounds for CHSY1 Gene

(6) Drugs for CHSY1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
Cobalt Pharma 167

(6) Additional Compounds for CHSY1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Cadmium atom
  • Cadmium elemental
  • Cadmium metallicum
  • Cd
  • Colloidal cadmium
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
genes like me logo Genes that share compounds with CHSY1: view

Transcripts for CHSY1 Gene

Unigene Clusters for CHSY1 Gene

Chondroitin sulfate synthase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHSY1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: - -
SP2: - - -

Relevant External Links for CHSY1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHSY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHSY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHSY1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (30.5), Heart (19.7), and Placenta (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHSY1 Gene

Protein tissue co-expression partners for CHSY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHSY1 Gene:


SOURCE GeneReport for Unigene cluster for CHSY1 Gene:


mRNA Expression by UniProt/SwissProt for CHSY1 Gene:

Tissue specificity: Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for CHSY1 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHSY1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with CHSY1: view

Primer Products

No data available for mRNA differential expression in normal tissues for CHSY1 Gene

Orthologs for CHSY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHSY1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CHSY1 34 35
  • 99.27 (n)
(Bos Taurus)
Mammalia CHSY 35
  • 96 (a)
CHSY1 34
  • 90.32 (n)
(Canis familiaris)
Mammalia CHSY1 34 35
  • 90.89 (n)
(Monodelphis domestica)
Mammalia CHSY1 35
  • 90 (a)
(Mus musculus)
Mammalia Chsy1 34 16 35
  • 87.33 (n)
(Rattus norvegicus)
Mammalia Chsy1 34
  • 86.7 (n)
(Gallus gallus)
Aves CHSY1 34 35
  • 82.28 (n)
(Anolis carolinensis)
Reptilia CHSY1 35
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chsy1 34
  • 77.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13395 34
(Danio rerio)
Actinopterygii chsy1 34 35
  • 72.88 (n)
Dr.11146 34
fruit fly
(Drosophila melanogaster)
Insecta CG9220 36 34 35
  • 54.53 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001010 34
  • 54.37 (n)
(Caenorhabditis elegans)
Secernentea sqv-5 35
  • 37 (a)
T24D1.1 36
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
Species where no ortholog for CHSY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)

Evolution for CHSY1 Gene

Gene Tree for CHSY1 (if available)
Gene Tree for CHSY1 (if available)

Paralogs for CHSY1 Gene

Paralogs for CHSY1 Gene

(2) SIMAP similar genes for CHSY1 Gene using alignment to 2 proteins: Pseudogenes for CHSY1 Gene

genes like me logo Genes that share paralogs with CHSY1: view

Variants for CHSY1 Gene

Sequence variations from dbSNP and Humsavar for CHSY1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs387906985 Pathogenic, Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282] 101,178,181(-) GATTC(C/G)TTTGT reference, missense
rs387906984 Pathogenic 101,251,252(-) GGGCG(C/T)AGCTC reference, stop-gained
rs113219895 Likely benign 101,178,579(+) ATGTC(A/G)TCCAA reference, synonymous-codon
rs148193087 Likely benign 101,178,472(+) CATAC(A/C/G)TGGGG reference, missense
rs150245745 Likely benign 101,177,709(+) ATACA(C/T)GTGAT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CHSY1 Gene

Variant ID Type Subtype PubMed ID
dgv2672n100 CNV gain 25217958
dgv2673n100 CNV gain 25217958
dgv452n67 CNV gain 20364138
dgv4788n54 CNV loss 21841781
dgv4789n54 CNV gain 21841781
dgv4790n54 CNV loss 21841781
esv1000122 CNV insertion 20482838
esv1358860 CNV insertion 17803354
esv21841 CNV loss 19812545
esv2221765 CNV deletion 18987734
esv2488930 CNV deletion 19546169
esv27268 CNV loss 19812545
esv2750181 CNV deletion 23290073
esv2750182 CNV deletion 23290073
esv2760063 CNV gain+loss 17122850
esv34275 CNV gain 17911159
esv3552949 CNV deletion 23714750
esv3637500 CNV loss 21293372
esv3637501 CNV gain 21293372
esv3637503 CNV loss 21293372
esv8823 CNV loss 19470904
nsv1035599 CNV gain 25217958
nsv1049577 CNV gain 25217958
nsv1071240 CNV deletion 25765185
nsv1131098 CNV deletion 24896259
nsv1135818 CNV deletion 24896259
nsv1151283 CNV insertion 26484159
nsv1691 CNV insertion 18451855
nsv428314 CNV loss 18775914
nsv570828 CNV gain 21841781
nsv570833 CNV loss 21841781
nsv570838 CNV loss 21841781
nsv570839 CNV gain+loss 21841781
nsv570844 CNV loss 21841781
nsv570845 CNV loss 21841781
nsv833110 CNV gain+loss 17160897
nsv9309 CNV loss 18304495

Variation tolerance for CHSY1 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.76; 83.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHSY1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHSY1 Gene

Disorders for CHSY1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CHSY1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
temtamy preaxial brachydactyly syndrome
  • preaxial brachydactyly syndrome, temtamy type
autonomic nervous system disease
  • autonomic nervous system disorder
reflex sympathetic dystrophy
  • reflex sympathetic dystrophy syndrome
peripheral nervous system disease
  • peripheral nerve disease
- elite association - COSMIC cancer census association via MalaCards
Search CHSY1 in MalaCards View complete list of genes associated with diseases


  • Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]: A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. {ECO:0000269 PubMed:21129727, ECO:0000269 PubMed:21129728}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHSY1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CHSY1: view

No data available for Genatlas for CHSY1 Gene

Publications for CHSY1 Gene

  1. Molecular cloning and expression of a human chondroitin synthase. (PMID: 11514575) Kitagawa H. … Sugahara K. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization. (PMID: 12716890) Kitagawa H. … Sugahara K. (J. Biol. Chem. 2003) 3 4 22 64
  3. Chondroitin sulfate synthase-3. Molecular cloning and characterization. (PMID: 12907687) Yada T. … Kimata K. (J. Biol. Chem. 2003) 3 4 22 64
  4. Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. (PMID: 21129727) Tian J. … Reversade B. (Am. J. Hum. Genet. 2010) 3 4 64
  5. Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. (PMID: 21129728) Li Y. … Wollnik B. (Am. J. Hum. Genet. 2010) 3 4 64

Products for CHSY1 Gene

Sources for CHSY1 Gene

Loading form....