MANEA
mannosidase endo-alpha
Summary
N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13206900 | 6:96,024,436 | T/G | coding sequence variant | — |
| rs9398417 | 6:96,031,111 | A/C | — | — |
| rs201105968 | 6:96,034,329 | G/A | — | uncertain significance |
| rs768285465 | 6:96,034,389 | G/A | — | uncertain significance |
| rs193238315 | 6:96,034,415 | G/T | — | uncertain significance |
| rs1769285868 | 6:96,034,428 | C/T | — | uncertain significance |
| rs147508899 | 6:96,034,517 | A/G | — | uncertain significance |
| rs1386533717 | 6:96,034,544 | A/C | — | uncertain significance |
| rs144076192 | 6:96,034,548 | G/C | — | uncertain significance |
| rs368513210 | 6:96,034,559 | A/C | — | uncertain significance |
| rs2482526914 | 6:96,034,671 | A/T | — | uncertain significance |
| rs201324785 | 6:96,034,680 | A/G | — | uncertain significance |
| rs764384484 | 6:96,034,713 | C/G | — | uncertain significance |
| rs762019122 | 6:96,034,734 | C/T | — | uncertain significance |
| rs144712371 | 6:96,034,746 | A/T | — | uncertain significance |
| rs976453550 | 6:96,034,747 | C/G | — | uncertain significance |
| rs752633261 | 6:96,034,764 | T/C | — | uncertain significance |
| rs2482527302 | 6:96,034,770 | C/T | — | uncertain significance |
| rs372953752 | 6:96,034,806 | G/A | — | uncertain significance |
| rs771560453 | 6:96,034,817 | G/C | — | uncertain significance |
| rs200517402 | 6:96,034,850 | G/T | — | uncertain significance |
| rs13192906 | 6:96,039,001 | A/G | intron variant | — |
| rs375303877 | 6:96,044,661 | G/A | — | uncertain significance |
| rs772400281 | 6:96,052,749 | T/C | — | uncertain significance |
| rs149270639 | 6:96,053,659 | C/T | — | uncertain significance |
| rs201268456 | 6:96,053,676 | C/T | — | uncertain significance |
| rs371956645 | 6:96,053,727 | G/A | — | uncertain significance |
| rs768161030 | 6:96,053,754 | C/T | — | uncertain significance |
| rs369326645 | 6:96,053,767 | A/G | — | uncertain significance |
| rs758307767 | 6:96,053,839 | G/C | — | uncertain significance |
| rs1421454427 | 6:96,053,871 | A/G | — | uncertain significance |
| rs533843112 | 6:96,053,921 | A/T | — | uncertain significance |
| rs35772543 | 6:96,053,922 | T/A | missense variant | — |
| rs2482562900 | 6:96,054,156 | A/G | — | uncertain significance |
| rs2482562922 | 6:96,054,159 | G/C | — | uncertain significance |
| rs1346748640 | 6:96,054,201 | G/C | — | uncertain significance |
| rs1133503 | 6:96,054,588 | C/G | — | — |
| rs9387522 | 6:96,054,935 | C/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.