Identity
HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
ASM,ASMASE,NPD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6609
MIM: 607608
HGNC: 11120
Ensembl: ENSG00000166311
Variants:
dbSNP: 6609
ClinVar: 6609
TCGA: ENSG00000166311
COSMIC: SMPD1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38337058 | 2024 | Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease. | 0 |
| 38337058 | 2024 | Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease. | 0 |
| 36725747 | 2023 | SMPD1 gene variants in patients with β-Thalassemia major. | 0 |
| 36882619 | 2023 | Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus. | 1 |
| 36907956 | 2023 | SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency. | 2 |
| 37246980 | 2023 | Acid sphingomyelinase expression is associated with survival in resectable pancreatic ductal adenocarcinoma. | 2 |
| 37341882 | 2023 | Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier. | 0 |
| 36725747 | 2023 | SMPD1 gene variants in patients with β-Thalassemia major. | 0 |
| 36882619 | 2023 | Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus. | 1 |
| 36907956 | 2023 | SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency. | 2 |
| 37246980 | 2023 | Acid sphingomyelinase expression is associated with survival in resectable pancreatic ductal adenocarcinoma. | 2 |
| 37341882 | 2023 | Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier. | 0 |
| 34554397 | 2022 | Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. | 1 |
| 34554397 | 2022 | Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. | 1 |
| 33665756 | 2021 | Acid Sphingomyelinase and Acid β-Glucosidase 1 Exert Opposite Effects on Interleukin-1β-Induced Interleukin 6 Production in Rheumatoid Arthritis Fibroblast-Like Synoviocytes. | 3 |
Citation
Dessen P
SMPD1 (sphingomyelin phosphodiesterase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43980/smpd1
