SMPD4 gene

sphingomyelin phosphodiesterase 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]

From UniProt:

Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606). 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).

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES

From UniProt:

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. [MIM:618622]

Cytogenetic Location: 2q21.1, which is the long (q) arm of chromosome 2 at position 21.1

Molecular Location: base pairs 130,151,392 to 130,181,757 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q21.1, which is the long (q) arm of chromosome 2 at position 21.1
  • NEDMABA
  • NEDMEBA
  • NET13
  • NSMASE-3
  • NSMASE3
  • SKNY