Entity Details

Primary name EXTL3
Entity type gene
Source Source Link

Details

PrimaryID2137
RefseqGene
SymbolEXTL3
Nameexostosin like glycosyltransferase 3
Chromosome8
Location8p21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-04-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEXTL3_HUMAN

GO terms

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GOName
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0006486 protein glycosylation
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0016021 integral component of membrane
GO:0016757 glycosyltransferase activity
GO:0030307 positive regulation of cell growth
GO:0036498 IRE1-mediated unfolded protein response
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
617425 OMIMImmunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. The disease is caused by variants affecting the gene represented in this entry.