B4GALT7
beta-1,4-galactosyltransferase 7
Summary
This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
Known Variants308 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs111484007 | 5:177,026,799 | C/A | — | likely benign |
| rs28707336 | 5:177,027,110 | C/T | — | benign |
| rs1241587845 | 5:177,027,176 | G/A | — | likely benign |
| rs1294064626 | 5:177,027,181 | C/T | — | likely benign |
| rs562627459 | 5:177,027,184 | G/T | — | likely benign |
| rs530248269 | 5:177,027,186 | C/T | — | likely benign |
| rs547981999 | 5:177,027,195 | C/A | — | likely benign |
| rs749515076 | 5:177,027,218 | C/T | — | uncertain significance |
| rs2127509643 | 5:177,027,224 | C/T | — | uncertain significance |
| rs778740793 | 5:177,027,226 | G/A | — | likely benign |
| rs886748984 | 5:177,027,229 | G/A | — | likely benign |
| rs1370799068 | 5:177,027,231 | A/G | — | uncertain significance |
| rs1448005107 | 5:177,027,238 | G/A | — | likely benign |
| rs1311839195 | 5:177,027,240 | A/T | — | uncertain significance |
| rs1005210482 | 5:177,027,244 | G/A | — | likely benign |
| rs794726935 | 5:177,027,246 | C/T | — | uncertain significance |
| rs200503833 | 5:177,027,249 | G/A | stop gained | pathogenic |
| rs1391741493 | 5:177,027,257 | G/C | — | uncertain significance |
| rs774824237 | 5:177,027,260 | A/G | — | uncertain significance |
| rs2532517390 | 5:177,027,262 | G/A | — | likely pathogenic |
| rs1180310359 | 5:177,027,270 | C/T | — | likely benign |
| rs746553066 | 5:177,027,274 | G/T | — | likely benign |
| rs1767809097 | 5:177,027,275 | G/A | — | likely benign |
| rs1259555733 | 5:177,027,281 | C/A | — | likely benign |
| rs2306760 | 5:177,027,405 | C/T | — | benign |
| rs115880641 | 5:177,029,097 | C/T | intron variant | — |
| rs566066441 | 5:177,029,281 | C/T | — | — |
| rs1554126437 | 5:177,031,160 | C/T | — | likely benign |
| rs2532525778 | 5:177,031,161 | T/C | — | likely benign |
| rs750251768 | 5:177,031,165 | C/A | — | likely benign |
| rs202024448 | 5:177,031,166 | C/T | — | likely benign |
| rs1405020049 | 5:177,031,167 | G/A | — | likely benign |
| rs374904923 | 5:177,031,168 | C/T | — | likely benign |
| rs763444666 | 5:177,031,169 | G/A | — | likely benign |
| rs1451130226 | 5:177,031,176 | C/T | — | likely benign |
| rs2127511415 | 5:177,031,180 | G/A | — | likely benign |
| rs2532525959 | 5:177,031,182 | C/G | — | uncertain significance |
| rs369075265 | 5:177,031,183 | C/T | — | likely benign |
| rs201186641 | 5:177,031,184 | G/T | — | uncertain significance |
| rs2532525977 | 5:177,031,186 | G/A | — | likely benign |
| rs774814337 | 5:177,031,195 | C/T | — | likely benign |
| rs759998518 | 5:177,031,198 | C/T | — | likely benign |
| rs2532526037 | 5:177,031,201 | C/T | — | likely benign |
| rs947051343 | 5:177,031,208 | C/T | — | uncertain significance |
| rs761147452 | 5:177,031,215 | G/A | — | uncertain significance |
| rs1433445414 | 5:177,031,218 | C/T | — | uncertain significance |
| rs1043221348 | 5:177,031,223 | T/A | — | uncertain significance |
| rs753921062 | 5:177,031,229 | C/T | — | likely benign |
| rs1328742625 | 5:177,031,231 | G/C | — | likely benign |
| rs1296346393 | 5:177,031,233 | T/A | — | uncertain significance |
| rs761984181 | 5:177,031,234 | C/T | — | likely benign |
| rs765468044 | 5:177,031,235 | G/A | — | uncertain significance |
| rs1382067342 | 5:177,031,238 | G/A | — | uncertain significance |
| rs375845310 | 5:177,031,251 | T/C | — | pathogenic |
| rs370483831 | 5:177,031,257 | T/G | — | conflicting classifications of pathogenicity |
| rs747688432 | 5:177,031,263 | C/G | — | uncertain significance |
| rs777543102 | 5:177,031,264 | C/T | — | likely benign |
| rs748963969 | 5:177,031,265 | C/T | — | likely benign |
| rs1025566307 | 5:177,031,290 | C/G | — | uncertain significance |
| rs1309659292 | 5:177,031,297 | C/G | — | uncertain significance |
| rs1767918464 | 5:177,031,299 | T/C | — | uncertain significance |
| rs769074597 | 5:177,031,300 | G/A | — | likely benign |
| rs2127511511 | 5:177,031,303 | C/G | — | uncertain significance |
| rs1331979413 | 5:177,031,304 | C/T | — | uncertain significance |
| rs373059256 | 5:177,031,314 | G/A | — | uncertain significance |
| rs2532526502 | 5:177,031,315 | G/C | — | uncertain significance |
| rs773416080 | 5:177,031,317 | G/A | — | uncertain significance |
| rs1767919814 | 5:177,031,333 | C/A | — | likely benign |
| rs1175963135 | 5:177,031,336 | G/A | — | uncertain significance |
| rs752728024 | 5:177,031,343 | C/G | — | uncertain significance |
| rs777486041 | 5:177,031,347 | G/A | — | uncertain significance |
| rs11537644 | 5:177,031,348 | T/C | — | benign |
| rs200218920 | 5:177,031,351 | C/G | — | likely benign |
| rs780427259 | 5:177,031,354 | C/A | — | pathogenic |
| rs777092684 | 5:177,031,368 | C/T | — | uncertain significance |
| rs377379133 | 5:177,031,369 | C/T | — | likely benign |
| rs773292907 | 5:177,031,375 | G/A | — | likely benign |
| rs766536438 | 5:177,031,385 | G/C | — | uncertain significance |
| rs759226446 | 5:177,031,387 | A/T | — | uncertain significance |
| rs1767923322 | 5:177,031,390 | C/T | — | likely benign |
| rs752670843 | 5:177,031,395 | C/T | — | uncertain significance |
| rs1359704427 | 5:177,031,396 | C/T | — | likely benign |
| rs1064796683 | 5:177,031,397 | — | — | pathogenic |
| rs375667092 | 5:177,031,402 | C/T | — | likely benign |
| rs756885469 | 5:177,031,403 | C/T | — | uncertain significance |
| rs778409854 | 5:177,031,404 | C/T | — | uncertain significance |
| rs142476892 | 5:177,031,406 | C/T | — | conflicting classifications of pathogenicity |
| rs370658610 | 5:177,031,407 | A/G | — | uncertain significance |
| rs926913315 | 5:177,031,412 | C/G | — | uncertain significance |
| rs748595740 | 5:177,031,417 | A/G | — | likely benign |
| rs114036939 | 5:177,031,426 | G/T | — | benign |
| rs151249724 | 5:177,031,429 | C/T | — | likely benign |
| rs771088509 | 5:177,031,431 | T/C | — | uncertain significance |
| rs759898367 | 5:177,031,434 | G/A | — | uncertain significance |
| rs140590638 | 5:177,031,440 | G/T | — | uncertain significance |
| rs1131691521 | 5:177,031,442 | T/G | — | uncertain significance |
| rs150487733 | 5:177,031,444 | C/T | — | conflicting classifications of pathogenicity |
| rs2127511686 | 5:177,031,445 | G/A | — | uncertain significance |
| rs1767927068 | 5:177,031,448 | G/C | — | uncertain significance |
| rs1767927262 | 5:177,031,453 | C/T | — | likely benign |
Showing 100 of 308 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.