Exostosin-like 1 is a
protein that in humans is encoded by the EXTL1gene.[5][6]
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.[6]
Zak BM, Crawford BE, Esko JD (2003). "Hereditary multiple exostoses and heparan sulfate polymerization". Biochim. Biophys. Acta. 1573 (3): 346–55.
doi:
10.1016/S0304-4165(02)00402-6.
PMID12417417.
Xu L, Xia J, Jiang H, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50.
doi:
10.1007/s004390051062.
PMID10480354.
Wuyts W, Spieker N, Van Roy N, et al. (2000). "Refined physical mapping and genomic structure of the EXTL1 gene". Cytogenet. Cell Genet. 86 (3–4): 267–70.
doi:
10.1159/000015317.
PMID10575224.
S2CID43018785.
Mathysen D, Van Roy N, Van Hul W, et al. (2004). "Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines". Eur. J. Cancer. 40 (8): 1255–61.
doi:
10.1016/j.ejca.2004.01.013.
PMID15110891.
Exostosin-like 1 is a
protein that in humans is encoded by the EXTL1gene.[5][6]
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.[6]
Zak BM, Crawford BE, Esko JD (2003). "Hereditary multiple exostoses and heparan sulfate polymerization". Biochim. Biophys. Acta. 1573 (3): 346–55.
doi:
10.1016/S0304-4165(02)00402-6.
PMID12417417.
Xu L, Xia J, Jiang H, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50.
doi:
10.1007/s004390051062.
PMID10480354.
Wuyts W, Spieker N, Van Roy N, et al. (2000). "Refined physical mapping and genomic structure of the EXTL1 gene". Cytogenet. Cell Genet. 86 (3–4): 267–70.
doi:
10.1159/000015317.
PMID10575224.
S2CID43018785.
Mathysen D, Van Roy N, Van Hul W, et al. (2004). "Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines". Eur. J. Cancer. 40 (8): 1255–61.
doi:
10.1016/j.ejca.2004.01.013.
PMID15110891.