SMPD4
Function
Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606, PubMed:25180167). It has a relevant role in the homeostasis of membrane sphingolipids, thereby influencing membrane integrity, and endoplasmic reticulum organization and function (PubMed:31495489). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924). In skeletal muscle, mediates TNF-stimulated oxidant production (By similarity).
Involvement in disease
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
NEDMABA
An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed, with highest levels in heart and skeletal muscle.
Isoform 1
Expressed in skeletal muscle (at protein level).
Isoform 2
Expressed in skeletal muscle but a lower levels than isoform 1 (at protein level).
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- Golgi apparatus membrane
- Single-pass membrane protein
- Nucleus envelope
- Cell membrane
- Sarcolemma
Alternative names
KIAA1418, SKNY, SMPD4, Sphingomyelin phosphodiesterase 4, Neutral sphingomyelinase 3, Neutral sphingomyelinase III, nSMase-3, nSMase3