Summary: Exostosin family
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The EXT family is a family of tumour suppressor genes. Mutations of EXT1 Q16394 on 8q24.1, EXT2 Q93063 on 11p11-13, and EXT3 on 19p have been associated with the autosomal dominant disorder known as hereditary multiple exostoses (HME). This is the most common known skeletal dysplasia. The chromosomal locations of other EXT genes suggest association with other forms of neoplasia. EXT1 and EXT2 have both been shown to encode a heparan sulphate polymerase with both D-glucuronyl (GlcA) and N-acetyl-D-glucosaminoglycan (GlcNAC) transferase activities . The nature of the defect in heparan sulphate biosynthesis in HME is unclear.
Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K; , J Biol Chem 1998;273:26265-26268.: The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. PUBMED:9756849 EPMC:9756849
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This tab holds annotation information from the InterPro database.
InterPro entry IPR004263Hereditary multiple exostoses (EXT) is an autosomal dominant disorder that is characterised by the appearance of multiple outgrowths of the long bones (exostoses) at their epiphyses [PUBMED:9473480]. Mutations in two homologous genes, EXT1 and EXT2, are responsible for the EXT syndrome. The human and mouse EXT genes have at least two homologs in the invertebrate Caenorhabditis elegans, indicating that they do not function exclusively as regulators of bone growth. EXT1 and EXT2 have both been shown to encode glycosyltransferases involved in the chain elongation step of heparan sulphate biosynthesis [PUBMED:9756849].
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|Cellular component||membrane (GO:0016020)|
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Curation and family details
|Seed source:||Pfam-B_2031 (release 6.4)|
|Number in seed:||33|
|Number in full:||1543|
|Average length of the domain:||267.00 aa|
|Average identity of full alignment:||21 %|
|Average coverage of the sequence by the domain:||51.06 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||10|
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