EXTL1 explained

Exostosin-like 1 is a protein that in humans is encoded by the EXTL1 gene.^[1]

This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin.^[2]

Further reading

• Zak BM, Crawford BE, Esko JD . Hereditary multiple exostoses and heparan sulfate polymerization. . Biochim. Biophys. Acta . 1573 . 3 . 346–55 . 2003 . 12417417 . 10.1016/S0304-4165(02)00402-6.
• Xu L, Xia J, Jiang H . Mutation analysis of hereditary multiple exostoses in the Chinese. . Hum. Genet. . 105 . 1–2 . 45–50 . 1999 . 10480354 . 10.1007/s004390051062 . etal.
• Wuyts W, Spieker N, Van Roy N . Refined physical mapping and genomic structure of the EXTL1 gene . Cytogenet. Cell Genet. . 86 . 3–4 . 267–70 . 2000 . 10575224 . 10.1159/000015317 . 43018785 . etal.
• Kim BT, Kitagawa H, Tamura J . Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode α1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis . Proc. Natl. Acad. Sci. U.S.A. . 98 . 13 . 7176–81 . 2001 . 11390981 . 10.1073/pnas.131188498 . 34642 . 2001PNAS...98.7176K . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Mathysen D, Van Roy N, Van Hul W . Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines . Eur. J. Cancer . 40 . 8 . 1255–61 . 2004 . 15110891 . 10.1016/j.ejca.2004.01.013 . etal.
• Gerhard DS, Wagner L, Feingold EA . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.
• Gregory SG, Barlow KF, McLay KE . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . etal. free .

Notes and References

1. Wise CA, Clines GA, Massa H, Trask BJ, Lovett M . Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family . Genome Res . 7 . 1 . 10–6 . May 1997 . 9037597 . 10.1101/gr.7.1.10. free .
2. Web site: Entrez Gene: EXTL1 exostoses (multiple)-like 1.