Version 2.77

Description

The COL4A3 gene provides instructions for making one component of type IV collagen, which is a flexible protein. Specifically, this gene makes the alpha3(IV) chain of type IV collagen. This chain combines with two other types of alpha (IV) chains (the alpha4 and alpha5 chains) to make a complete type IV collagen molecule. Type IV collagen molecules attach to each other to form complex protein networks. These networks make up a large portion of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen alpha3-4-5 networks play an especially important role in the basement membranes of the kidney, inner ear, and eye. Source: 3M Health Information Systems,

Basic Part Properties

Part Display Name
COL4A3 gene targeted mutation analysis
Part Type
Component (Describes the core component or analyte measured)
Created On
2023-04-20
Construct for LOINC Short Name
COL4A3 Mut Anl

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP435189-8