Version 2.77

Description

The SMPD1 gene (sphingomyelin phosphodiesterase 1, acid lysosomal) [HGNC Gene ID:11120] is located on chromosome 11p15.4-p15.1. 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] [NCBI Gene ID:6609] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
SMPD1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2002-10-07
Construct for LOINC Short Name
SMPD1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP30751-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP30751-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SMPD1 基因
Synonyms: ASM 基因缺陷;Nieman-Pick 病 A 与 B 型基因;Nieman-Pick 病 A 型;Nieman-Pick 病 B 型;NPDA;NPDB;尼曼-匹克病 A 与 B 型基因;尼曼-匹克病 A 型;尼曼-匹克病 B 型;尼曼-皮克病 A 与 B 型基因;尼曼-皮克病 A 型;尼曼-皮克病 B 型
et-EE Estonian (Estonia) SMPD1 geen
es-ES Spanish (Spain) Gen SMPD1
it-IT Italian (Italy) SMPD1, gene
Synonyms: Gene SMPD1
tr-TR Turkish (Turkey) SMPD1 geni
ru-RU Russian (Russian Federation) SMPD1 ген
nl-NL Dutch (Netherlands) SMPD1-gen
Synonyms: SMPD1 gen