SMPD1 (Gene)

Synonyms:ASM, ASMASE, ENTREZ:6609, HGNC:11120, MIM:607608, NM_000543, NM_001007593, NM_001318087, NM_001318088, NM_001365135, NPD, NP_000534, NP_001007594, NP_001305016, NP_001305017, NP_001352064, NR_027400, NR_134502, SMPD1, XM_011520304, XP_011518606, XR_001747940, XR_002957158, sphingomyelin phosphodiesterase 1
Omim:OMIM:607608
Id:ENSG00000166311
Hgnc:HGNC:11120
Entrez:6609
Description:sphingomyelin phosphodiesterase 1
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SMPD1's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with SMPD1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using SMPD1.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for SMPD1.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with SMPD1.

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