SMPD4
Chr 2ARsphingomyelin phosphodiesterase 4
The protein catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide, playing a critical role in membrane sphingolipid homeostasis and endoplasmic reticulum function. Biallelic mutations cause a neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies with autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants in the general population.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SMPD4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools