NAGA

Chr 22AR

alpha-N-acetylgalactosaminidase

Also known as: D22S674, GALB

NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.303 OMIM phenotypes
Clinical SummaryNAGA
🧬
Gene-Disease Validity (ClinGen)
alpha-N-acetylgalactosaminidase deficiency · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.51
OE 0.88 (0.611.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.17Z-score
OE missense 0.97 (0.871.08)
237 obs / 244.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.88 (0.611.30)
00.351.4
Missense OE?0.97 (0.871.08)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 18 / 20.5Missense obs/exp: 237 / 244.5Syn Z: 0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NAGA · 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.

Search ClinicalTrials.gov →