ALG1

Chr 16

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Also known as: CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1

NCBI Gene: 56052ENSG00000033011UniProt: Q9BT22

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1K

Clinical highlights

Gene-disease validity (ClinGen)
ALG1-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
LOEUF
LOF
Mechanism· G2P
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GeneReview available — ALG1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score -0.41
OE 1.09 (0.80–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.05Z-score
OE missense 1.35 (1.24–1.48)
357 obs / 263.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.09 (0.80–1.50)
0≤0.351.4
Missense OE?1.35 (1.24–1.48)
0≤0.61.4
Synonymous OE?1.45
0≤1.21.6
LoF obs/exp: 27 / 24.8Missense obs/exp: 357 / 263.5Syn Z: -3.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ALG1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients