Version 2.77

Description

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015] Source: 3M Health Information Systems,

Basic Part Properties

Part Display Name
HPS3 gene targeted mutation analysis
Part Type
Component (Describes the core component or analyte measured)
Created On
2023-04-23
Construct for LOINC Short Name
HPS3 Mut Anl

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP435229-2