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Aliases for XYLT1 Gene

Aliases for XYLT1 Gene

  • Xylosyltransferase 1 2 3 4 5
  • Xylosyltransferase I 2 3 4
  • Peptide O-Xylosyltransferase 1 3 4
  • EC 4 56
  • XylT-I 3 4
  • XT-I 3 4
  • XT1 3 4
  • Protein Xylosyltransferase 1 2
  • Beta-D-Xylosyltransferase 1 3
  • Xylosyltransferase Iota 3
  • PXYLT1 3
  • DBQD2 3
  • XYLTI 3
  • XTI 3

External Ids for XYLT1 Gene

Previous GeneCards Identifiers for XYLT1 Gene

  • GC16P017598
  • GC16P016874
  • GC16M017128
  • GC16M017167
  • GC16M017108
  • GC16M017103
  • GC16M017196
  • GC16M016198

Summaries for XYLT1 Gene

Entrez Gene Summary for XYLT1 Gene

  • This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]

GeneCards Summary for XYLT1 Gene

XYLT1 (Xylosyltransferase 1) is a Protein Coding gene. Diseases associated with XYLT1 include Desbuquois Dysplasia 2 and Pseudoxanthoma Elasticum. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include acetylglucosaminyltransferase activity and protein xylosyltransferase activity. An important paralog of this gene is XYLT2.

UniProtKB/Swiss-Prot for XYLT1 Gene

  • Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:24581741, PubMed:23982343). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:24581741, PubMed:23982343). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity).

Gene Wiki entry for XYLT1 Gene

Additional gene information for XYLT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XYLT1 Gene

Genomics for XYLT1 Gene

GeneHancer (GH) Regulatory Elements for XYLT1 Gene

Promoters and enhancers for XYLT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J017469 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 606.8 +0.7 668 4.4 CTCF RAD21 IKZF1 IKZF2 REST LARP7 TRIM22 EED FOS ZNF592 XYLT1 LOC105371106 ENSG00000285850 GC16P017443
GH16J017447 Enhancer 1.1 FANTOM5 Ensembl ENCODE 23.2 +20.6 20580 9.8 ZNF143 MNT RUNX3 JUNB NR2F2 SMARCA5 RCOR1 EBF1 MAFK ZBTB40 XYLT1 ENSG00000285850 ENSG00000275927 GC16P017443
GH16J017361 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.5 +104.0 103974 9.9 ZNF687 SP1 MLLT1 IKZF1 POLR2A IKZF2 TRIM22 MNT CBFB DPF2 XYLT1 GC16P017364 GC16P017372
GH16J017376 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 8.1 +91.7 91694 4.5 NKRF ZNF687 MAFK CREM IKZF1 CREB1 POLR2A BACH1 IKZF2 TRIM22 XYLT1 GC16P017372 GC16P017422
GH16J017341 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.6 +127.2 127168 3.8 SP1 CREM IKZF1 IKZF2 TRIM22 PKNOX1 MNT CBFB DPF2 EED XYLT1 GC16P017341 GC16P017364
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XYLT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the XYLT1 gene promoter:
  • aMEF-2
  • FOXL1
  • GATA-1
  • Hlf
  • HSF2
  • MEF-2
  • MEF-2A
  • Olf-1
  • RSRFC4
  • S8

Genomic Locations for XYLT1 Gene

Genomic Locations for XYLT1 Gene
369,113 bases
Minus strand
369,113 bases
Minus strand

Genomic View for XYLT1 Gene

Genes around XYLT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XYLT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XYLT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XYLT1 Gene

Proteins for XYLT1 Gene

  • Protein details for XYLT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Xylosyltransferase 1
    Protein Accession:
    Secondary Accessions:
    • Q9H1B6

    Protein attributes for XYLT1 Gene

    959 amino acids
    Molecular mass:
    107569 Da
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Monomer.
    • Activity is strongly reduced in seminal plasma of infertile men.

    Three dimensional structures from OCA and Proteopedia for XYLT1 Gene

neXtProt entry for XYLT1 Gene

Selected DME Specific Peptides for XYLT1 Gene


Post-translational modifications for XYLT1 Gene

Other Protein References for XYLT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for XYLT1 Gene

Gene Families for XYLT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for XYLT1 Gene

Suggested Antigen Peptide Sequences for XYLT1 Gene

GenScript: Design optimal peptide antigens:
  • Xylosyltransferase I (XYLT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
genes like me logo Genes that share domains with XYLT1: view

Function for XYLT1 Gene

Molecular function for XYLT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:24581741, PubMed:23982343). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:24581741, PubMed:23982343). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:50192, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12567, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:132085; EC=; Evidence={ECO:0000269 PubMed:11087729, ECO:0000269 PubMed:11099377, ECO:0000269 PubMed:15294915, ECO:0000269 PubMed:15461586, ECO:0000269 PubMed:23982343, ECO:0000269 PubMed:29681470};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.9 uM for recombinant bikunin {ECO:0000269 PubMed:15294915, ECO:0000269 PubMed:15461586}; Vmax=764 pmol/h/mg enzyme with recombinant bikunin as substrate {ECO:0000269 PubMed:15294915, ECO:0000269 PubMed:15461586};

Enzyme Numbers (IUBMB) for XYLT1 Gene

Phenotypes From GWAS Catalog for XYLT1 Gene

Gene Ontology (GO) - Molecular Function for XYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030158 protein xylosyltransferase activity TAS 11099377
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with XYLT1: view
genes like me logo Genes that share phenotypes with XYLT1: view

Human Phenotype Ontology for XYLT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for XYLT1 Gene

miRTarBase miRNAs that target XYLT1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XYLT1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for XYLT1 Gene

Localization for XYLT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XYLT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Note=Detected predominantly in the Golgi apparatus. {ECO:0000269 PubMed:28462984}.

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 XYLT1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for XYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000137 Golgi cis cisterna ISS --
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 11087729
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with XYLT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for XYLT1 Gene

Pathways & Interactions for XYLT1 Gene

genes like me logo Genes that share pathways with XYLT1: view

UniProtKB/Swiss-Prot Q86Y38-XYLT1_HUMAN

  • Pathway: Glycan metabolism; chondroitin sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Gene Ontology (GO) - Biological Process for XYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS 11099377
GO:0015012 heparan sulfate proteoglycan biosynthetic process IMP 17189265
GO:0030166 proteoglycan biosynthetic process IDA 11087729
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030206 chondroitin sulfate biosynthetic process IEA --
genes like me logo Genes that share ontologies with XYLT1: view

No data available for SIGNOR curated interactions for XYLT1 Gene

Drugs & Compounds for XYLT1 Gene

(6) Drugs for XYLT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for XYLT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate b
  • Chondroitin sulfate type b
  • Chondroitin sulphate b
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-delta-Xylose
genes like me logo Genes that share compounds with XYLT1: view

Transcripts for XYLT1 Gene

mRNA/cDNA for XYLT1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for XYLT1 Gene

Xylosyltransferase I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XYLT1

Alternative Splicing Database (ASD) splice patterns (SP) for XYLT1 Gene

No ASD Table

Relevant External Links for XYLT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XYLT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for XYLT1 Gene

Protein differential expression in normal tissues from HIPED for XYLT1 Gene

This gene is overexpressed in Urine (55.6) and Vitreous humor (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for XYLT1 Gene

Protein tissue co-expression partners for XYLT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of XYLT1 Gene:


SOURCE GeneReport for Unigene cluster for XYLT1 Gene:


mRNA Expression by UniProt/SwissProt for XYLT1 Gene:

Tissue specificity: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for XYLT1 Gene

  • Nervous system(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for XYLT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with XYLT1: view

No data available for mRNA differential expression in normal tissues for XYLT1 Gene

Orthologs for XYLT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for XYLT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia XYLT1 35 34
  • 99.19 (n)
(Bos Taurus)
Mammalia XYLT1 35 34
  • 89.47 (n)
(Canis familiaris)
Mammalia XYLT1 35 34
  • 88.48 (n)
(Rattus norvegicus)
Mammalia Xylt1 34
  • 87.52 (n)
(Mus musculus)
Mammalia Xylt1 17 35 34
  • 86.77 (n)
(Monodelphis domestica)
Mammalia XYLT1 35
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia XYLT1 35
  • 81 (a)
(Gallus gallus)
Aves XYLT1 35 34
  • 78.14 (n)
(Anolis carolinensis)
Reptilia XYLT1 35
  • 53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17213 34
tropical clawed frog
(Silurana tropicalis)
Amphibia xylt1 34
(Danio rerio)
Actinopterygii xylt1 35 34
  • 69.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta oxt 35 36 34
  • 53.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005811 34
  • 50.8 (n)
(Caenorhabditis elegans)
Secernentea Y50D4C.4 36
  • 39 (a)
sqv-6 35
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
Species where no ortholog for XYLT1 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)
  • 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 XYLT1 Gene

Gene Tree for XYLT1 (if available)
Gene Tree for XYLT1 (if available)
Evolutionary constrained regions (ECRs) for XYLT1: view image

Paralogs for XYLT1 Gene

Paralogs for XYLT1 Gene

(1) SIMAP similar genes for XYLT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with XYLT1: view

Variants for XYLT1 Gene

Sequence variations from dbSNP and Humsavar for XYLT1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs144531370 benign, Desbuquois dysplasia 1 17,198,229(-) C/T coding_sequence_variant, synonymous_variant
rs1457612277 uncertain-significance, Desbuquois dysplasia 1 17,198,284(-) C/T coding_sequence_variant, missense_variant
rs150492983 likely-benign, Desbuquois dysplasia 1 17,134,493(-) C/G/T coding_sequence_variant, synonymous_variant
rs201818754 pathogenic, Desbuquois dysplasia 2 17,138,534(-) G/A intron_variant
rs587777366 pathogenic, Desbuquois dysplasia 2, Desbuquois dysplasia 2 (DBQD2) [MIM:615777] 17,141,299(-) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for XYLT1 Gene

Variant ID Type Subtype PubMed ID
dgv465n67 CNV loss 20364138
dgv482e199 CNV deletion 23128226
dgv4924n54 CNV gain 21841781
dgv802e212 CNV loss 25503493
esv1009408 CNV deletion 20482838
esv1343982 CNV deletion 17803354
esv2714015 CNV deletion 23290073
esv2714035 CNV deletion 23290073
esv2714036 CNV deletion 23290073
esv2714037 CNV deletion 23290073
esv2714038 CNV deletion 23290073
esv2751550 CNV gain 17911159
esv2758634 CNV gain+loss 17122850
esv3306104 CNV mobile element insertion 20981092
esv3340353 CNV insertion 20981092
esv3393881 CNV insertion 20981092
esv3400578 CNV insertion 20981092
esv3582064 CNV loss 25503493
esv3582065 CNV loss 25503493
esv3638072 CNV gain 21293372
esv3638073 CNV loss 21293372
esv3638074 CNV gain 21293372
esv3638077 CNV loss 21293372
esv3638080 CNV loss 21293372
nsv1035773 CNV gain 25217958
nsv103826 CNV deletion 16902084
nsv1046238 CNV gain 25217958
nsv1047898 CNV loss 25217958
nsv1049647 CNV gain+loss 25217958
nsv1054751 CNV loss 25217958
nsv1071271 CNV deletion 25765185
nsv1113761 CNV deletion 24896259
nsv1118346 CNV deletion 24896259
nsv1125134 CNV deletion 24896259
nsv1160364 CNV deletion 26073780
nsv1749 CNV deletion 18451855
nsv1750 CNV insertion 18451855
nsv435664 CNV deletion 17901297
nsv457428 CNV gain 19166990
nsv474664 CNV novel sequence insertion 20440878
nsv477213 CNV novel sequence insertion 20440878
nsv571575 CNV loss 21841781
nsv571576 CNV loss 21841781
nsv7278 OTHER inversion 18451855
nsv827580 CNV gain 20364138
nsv833153 CNV gain 17160897
nsv833154 CNV loss 17160897

Variation tolerance for XYLT1 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.29; 85.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XYLT1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XYLT1 Gene

Disorders for XYLT1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for XYLT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search XYLT1 in MalaCards View complete list of genes associated with diseases


  • Desbuquois dysplasia 2 (DBQD2) [MIM:615777]: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. {ECO:0000269 PubMed:23982343, ECO:0000269 PubMed:24581741, ECO:0000269 PubMed:28462984}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO:0000269 PubMed:16571645}. Note=The gene represented in this entry acts as a disease modifier.

Additional Disease Information for XYLT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with XYLT1: view

No data available for Genatlas for XYLT1 Gene

Publications for XYLT1 Gene

  1. Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II. (PMID: 11099377) Götting C … Kleesiek K (Journal of molecular biology 2000) 2 3 4 23 58
  2. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. (PMID: 23982343) Schreml J … Ozkinay F (Human genetics 2014) 2 3 4 58
  3. The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PMID: 19014925) Ambrosius M … Götting C (Clinical biochemistry 2009) 3 23 45 58
  4. Xylosyltransferase gene variants and their role in essential hypertension. (PMID: 19197251) Pönighaus C … Götting C (American journal of hypertension 2009) 3 23 45 58
  5. Xylosyltransferase I variants and their impact on abdominal aortic aneurysms. (PMID: 18294457) Götting C … Kleesiek K (Clinica chimica acta; international journal of clinical chemistry 2008) 3 23 45 58

Products for XYLT1 Gene

Sources for XYLT1 Gene

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