Version 2.77

Description

The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Source: 3M Health Information Systems,

Basic Part Properties

Part Display Name
DHDDS gene targeted mutation analysis
Part Type
Component (Describes the core component or analyte measured)
Created On
2023-04-24
Construct for LOINC Short Name
DHDDS Mut Anl

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP435238-3