Gene: EXTL3

Alternate names for this Gene: BOTV|EXTL1L|EXTR1|ISDNA|REGR|RPR

Gene Summary: This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.1

Description of this Gene: exostosin like glycosyltransferase 3

Type of Gene: protein-coding

rs10448080 in EXTL3 gene and Body Height PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs554294508 in EXTL3 gene and IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES PMID 28148688 2017 EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

PMID 28132690 2017 Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

rs4339595 in EXTL3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.