Description

The SLC17A5 gene (solute carrier family 17 member 5) [HGNC Gene ID:10933] is located on chromosome 6q13. This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008] [NCBI Gene ID:26503] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
SLC17A5 gene
Part Display Name
SLC17A5 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-17
Construct for LOINC Short Name
SLC17A5

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208425-1

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)SLC17A5 基因
Synonyms: 溶质载体家族 17 成员 5;Solute Carrier Family 17 Member 5
es-ESSpanish (Spain)Gen SLC17A5
it-ITItalian (Italy)SLC17A5, gene
Synonyms: Gene SLC17A5
nl-NLDutch (Netherlands)SLC17A5-gen
Synonyms: SLC17A5 gen
fr-FRFrench (France)SLC17A5 gène
pl-PLPolish (Poland)SLC17A5 gen
Synonyms: Gen SLC17A5
el-GRGreek (Greece)Γονίδιο SLC17A5
Synonyms: Γονίδιο SLC17A5