MANEA

Chr 6

mannosidase endo-alpha

Also known as: ENDO, hEndo

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]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.86
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.001
Z-score 1.97
OE 0.48 (0.280.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.01Z-score
OE missense 1.00 (0.901.11)
248 obs / 247.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.48 (0.280.86)
00.351.4
Missense OE?1.00 (0.901.11)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 8 / 16.7Missense obs/exp: 248 / 247.7Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MANEA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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