ALG10

Chr 12

ALG10 alpha-1,2-glucosyltransferase

Also known as: ALG10A, DIE2, KCR1

This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital disorder of glycosylation · ARLimitednot for standalone diagnostic reporting
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.20
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?
1.20LOEUF
pLI 0.000
Z-score 0.98
OE 0.73 (0.461.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.03Z-score
OE missense 1.01 (0.901.12)
234 obs / 232.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.73 (0.461.20)
00.351.4
Missense OE?1.01 (0.901.12)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 11 / 15.1Missense obs/exp: 234 / 232.8Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ALG10 · 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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