The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]

0
Active trials
8
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.61
LOEUF
Mechanism
Clinical SummaryNEU4
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
1.61LOEUF
pLI 0.000
Z-score 0.11
OE 0.96 (0.591.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.16Z-score
OE missense 1.02 (0.941.12)
348 obs / 339.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.96 (0.591.61)
00.351.4
Missense OE1.02 (0.941.12)
00.61.4
Synonymous OE1.13
01.21.6
LoF obs/exp: 10 / 10.4Missense obs/exp: 348 / 339.6Syn Z: -1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NEU4 · 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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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗