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Aliases for XYLT1 Gene

Aliases for XYLT1 Gene

  • Xylosyltransferase 1 2 3 5
  • Xylosyltransferase I 2 3 4
  • Peptide O-Xylosyltransferase 1 3 4
  • EC 2.4.2.26 4 61
  • 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. 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 biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes.

Gene Wiki entry 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

Regulatory Elements for XYLT1 Gene

Enhancers for XYLT1 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
GH16G017361 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.5 +104.0 103974 9.9 HDGF TBP PKNOX1 ARNT YBX1 RAD21 ZNF207 FOS RELB ETV6 XYLT1 GC16P017364 GC16P017372
GH16G017374 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +92.7 92732 6.6 TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A RAD21 ZNF335 FOS RELB IKZF2 XYLT1 GC16P017372 GC16P017422
GH16G017448 1.1 FANTOM5 Ensembl ENCODE 9.7 +22.0 21988 2.5 ZMYM3 ZNF143 TCF7 XYLT1 ENSG00000275927
GH16G017447 0.4 ENCODE 19.1 +23.5 23533 0.2 SMARCA4 NR2F2 XYLT1 ENSG00000275927
GH16G017170 1.4 FANTOM5 Ensembl ENCODE 5 +298.5 298451 3.5 FOXA2 MLX RAD21 RARA YY1 CREM CEBPB JUNB MIER2 NR2F2 XYLT1 ENSG00000279410 LOC102723692
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around XYLT1 on UCSC Golden Path with GeneCards custom track

Promoters for XYLT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084025 281 1601 SP3 BHLHE40 ZNF398 JUND GATA3 IKZF1 FOS EZH2

Genomic Location for XYLT1 Gene

Chromosome:
16
Start:
17,101,769 bp from pter
End:
17,470,881 bp from pter
Size:
369,113 bases
Orientation:
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:
    Q86Y38-XYLT1_HUMAN
    Recommended name:
    Xylosyltransferase 1
    Protein Accession:
    Q86Y38
    Secondary Accessions:
    • Q9H1B6

    Protein attributes for XYLT1 Gene

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

neXtProt entry for XYLT1 Gene

Selected DME Specific Peptides for XYLT1 Gene

Q86Y38:
  • TNLAVSKLETLETW
  • YFLADRFQGFLIKHH
  • VNQEIIGQLD
  • PAGTPGLRSYWE
  • NFLKSHGRDN
  • LDRLFLECD
  • MPKKVFK
  • APRRERRDL
  • PKCDISGKEAISAL
  • LVVHGRA
  • YTLLPAESFFHTVLE
  • FFARKFE
  • WDFFINLSA
  • VDGGSDW
  • YMEQSFQ
  • YIHVDKRS
  • TIWGGAS
  • QYKHIVDWCGCSPNDFKPQDF
  • GCKCQYKH
  • KNVQWDED
  • PDPKSELG
  • VGTDWDAKERLFRNFGGLLGPMDEPVGMQKWGKGPNVTV
  • NVRVTPWRM
  • ATYDILIESTAEFTHYKPPLNLPLRPGVWTVKILHHWVP
  • RSNYLHR
  • RAKSKHCRQEI

Post-translational modifications for XYLT1 Gene

Other Protein References for XYLT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for XYLT1 Gene

Protein Domains for XYLT1 Gene

Suggested Antigen Peptide Sequences for XYLT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86Y38

UniProtKB/Swiss-Prot:

XYLT1_HUMAN :
  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
Family:
  • 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 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};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-xylose + [protein]-L-serine = UDP + [protein]-3-O-(beta-D-xylosyl)-L-serine.
UniProtKB/Swiss-Prot Function:
Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes.

Enzyme Numbers (IUBMB) 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
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

Clone Products

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

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Note=Some fraction is also found in the extracellular space together with chondroitin sulfate proteoglycans, suggesting that it can be secreted.

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 XYLT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 4
endoplasmic reticulum 4
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for XYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with XYLT1: view

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.

Interacting Proteins for XYLT1 Gene

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 IEA --
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

(5) Drugs for XYLT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
UDP-D-Xylose
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
3616-06-6
genes like me logo Genes that share compounds with XYLT1: view

Transcripts for XYLT1 Gene

mRNA/cDNA for XYLT1 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for XYLT1 Gene

Xylosyltransferase I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for XYLT1 Gene

GeneLoc Exon Structure for
XYLT1
ECgene alternative splicing isoforms for
XYLT1

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, PaxDb, and MOPED for XYLT1 Gene



Protein tissue co-expression partners for XYLT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of XYLT1 Gene:

XYLT1

SOURCE GeneReport for Unigene cluster for XYLT1 Gene:

Hs.22907

mRNA Expression by UniProt/SwissProt for XYLT1 Gene:

Q86Y38-XYLT1_HUMAN
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(2.7)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
Limb:
  • 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
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with XYLT1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia XYLT1 34 35
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia XYLT1 34 35
  • 89.47 (n)
dog
(Canis familiaris)
Mammalia XYLT1 34 35
  • 88.48 (n)
rat
(Rattus norvegicus)
Mammalia Xylt1 34
  • 87.52 (n)
mouse
(Mus musculus)
Mammalia Xylt1 34 16 35
  • 86.77 (n)
oppossum
(Monodelphis domestica)
Mammalia XYLT1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XYLT1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves XYLT1 34 35
  • 78.14 (n)
lizard
(Anolis carolinensis)
Reptilia XYLT1 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xylt1 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.17213 34
zebrafish
(Danio rerio)
Actinopterygii xylt1 34 35
  • 69.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta oxt 36 34 35
  • 53.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005811 34
  • 50.8 (n)
worm
(Caenorhabditis elegans)
Secernentea Y50D4C.4 36
  • 39 (a)
sqv-6 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
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

ENSEMBL:
Gene Tree for XYLT1 (if available)
TreeFam:
Gene Tree for XYLT1 (if available)

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 Sequence Context AA Info Type
rs587777366 Pathogenic, Desbuquois dysplasia 2 (DBQD2) [MIM:615777] 17,141,299(+) CCGCC(A/G)ATCTC reference, missense
rs587777367 Pathogenic, Desbuquois dysplasia 2 (DBQD2) [MIM:615777] 17,134,708(+) CTTGC(A/G)GGCAA intron-variant, reference, missense
rs61758388 other, Pseudoxanthoma elasticum (PXE) [MIM:264800] 17,470,454(-) GGGGG(G/T)CACTG upstream-variant-2KB, reference, missense
rs201818754 Pathogenic 17,138,534(+) GGACT(A/G)CAGGG intron-variant, nc-transcript-variant
rs587777368 Pathogenic 17,259,462(+) TGTTC(A/G)CACTT reference, stop-gained

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)

Relevant External Links for XYLT1 Gene

Human Gene Mutation Database (HGMD)
XYLT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XYLT1

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

Disorders for XYLT1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
desbuquois dysplasia 2
  • dbqd2
pseudoxanthoma elasticum
  • pseudoxanthoma elasticum, modifier of severity of
xylt1-cdg
desbuquois dysplasia
  • desbuquois syndrome
eastern equine encephalitis
  • eee
- elite association - COSMIC cancer census association via MalaCards
Search XYLT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XYLT1_HUMAN
  • 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}. 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 dorange, 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.

Relevant External Links for XYLT1

Genetic Association Database (GAD)
XYLT1
Human Genome Epidemiology (HuGE) Navigator
XYLT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XYLT1
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) Goetting C. … Kleesiek K. (J. Mol. Biol. 2000) 2 3 4 22 64
  2. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. (PMID: 23982343) Schreml J. … Ozkinay F. (Hum. Genet. 2014) 2 3 4 64
  3. The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PMID: 19014925) Ambrosius M. … GAPtting C. (Clin. Biochem. 2009) 3 22 46 64
  4. Xylosyltransferase gene variants and their role in essential hypertension. (PMID: 19197251) PAPnighaus C. … GAPtting C. (Am. J. Hypertens. 2009) 3 22 46 64
  5. Xylosyltransferase I variants and their impact on abdominal aortic aneurysms. (PMID: 18294457) GAPtting C. … Kleesiek K. (Clin. Chim. Acta 2008) 3 22 46 64

Products for XYLT1 Gene

Sources for XYLT1 Gene

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