RecName: Full=Sphingomyelin phosphodiesterase 4; AltName: Full=Neutral - Protein

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Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. [Neurogenetics. 2024]
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Aoki S, Watanabe K, Kato M, Konishi Y, Kubota K, Kobayashi E, Nakashima M, Saitsu H. Neurogenetics. 2024 Jan; 25(1):3-11. Epub 2023 Oct 26.
Proximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane. [Cells. 2022]
Proximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane.
Piët ACA, Post M, Dekkers D, Demmers JAA, Fornerod M. Cells. 2022 Feb 15; 11(4). Epub 2022 Feb 15.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. [Am J Hum Genet. 2019]
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, et al. Am J Hum Genet. 2019 Oct 3; 105(4):689-705. Epub 2019 Sep 5.

RefSeq genomic sequence
See the genomic reference sequence for the SMPD4 gene (NG_053070.1).
RefSeq protein isoforms
See 27 reference sequence protein isoforms for the SMPD4 gene.

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Q9NXE4 [Domain Mapping of Disease Mut...]
Q9NXE4
Domain Mapping of Disease Mutations
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein