SMPD4 hydrolyzes sphingomyelin (ER membrane)

Stable Identifier
R-HSA-1606288
Type
Reaction [transition]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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ER membrane-bound sphingomyelin phosphodiesterase 4 (SMPD4) hydrolyses sphingomyelin to ceramide (Krut et al. 2006). Loss-of-function mutations in the SMPD4 gene cause neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) (Magini et al., 2019).
Literature References
PubMed ID Title Journal Year
31495489 Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Zaki, MS, Dobyns, WB, Lequin, MH, Rolfs, A, Gleeson, JG, Jansen, AC, Bazak, L, Striano, P, Alhashem, A, Dremmen, M, Mancini, GMS, Mirzaa, GM, Bauer, P, Schot, R, Kasteleijn, E, Palombo, F, Al Fares, A, Davidov, B, Fornerod, M, Wilke, M, Musaev, D, Basel-Salmon, L, Hopkin, RJ, Stanley, V, Magini, P, Akleh, H, Gawlinski, P, Hufnagel, RB, Vandervore, L, van Slegtenhorst, M, Cappuccio, G, Pippucci, T, Aljeaid, D, Laure-Kamionowska, M, de Wit, MCY, van der Ent, M, Alkuraya, FS, Seri, M, Ordonez-Herrera, N, Bertoli-Avella, A, Severino, M, Al Ghamdi, M, Smits, DJ, Columbaro, M, Brunetti-Pierri, N, Demmers, J, Shahar, NR, Divizia, MT, Verheijen, FW, Stottmann, RW, van der Spek, PJ, Wiszniewski, W

Am J Hum Genet 2019
16517606 Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein

Kashkar, H, Krönke, M, Yazdanpanah, B, Krut, O, Wiegmann, K

J Biol Chem 2006
Participants
Participates
Catalyst Activity

sphingomyelin phosphodiesterase activity of SMPD4:Mg2+ [endoplasmic reticulum membrane]

Orthologous Events
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