Version 2.78

Description

The COL3A1 gene (collagen, type III, alpha 1) [HGNC Gene ID:2201] is located on chromosome 2q31. This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] [NCBI Gene ID:1281] 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
COL3A1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-07-11
Construct for LOINC Short Name
COL3A1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35859-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35859-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) COL3A1 基因
Synonyms: EDS4A;胶原 alpha 1 (III 型) 链前体基因;胶原 III 型, alpha-1 多肽基因;胶原 III 型, α-1 多肽基因;胶原 α1 (III 型) 链前体基因;胶原, III 型, alpha 1 (Ehlers-Danlos 综合征 IV 型, 常染色体显性);胶原, III 型, alpha 1 (艾丹氏症候群 IV 型, 常染色体显性);胶原, III 型, α1 (Ehlers-Danlos 综合征 IV 型, 常染色体显性);胶原, III 型, α1 (艾丹氏症候群
et-EE Estonian (Estonia) COL3A1 geen
es-ES Spanish (Spain) Gen COL3A1
it-IT Italian (Italy) COL3A1, gene
Synonyms: Gene COL3A1
tr-TR Turkish (Turkey) COL3A1 geni
ru-RU Russian (Russian Federation) COL3A1 ген
nl-NL Dutch (Netherlands) COL3A1-gen
Synonyms: COL3A1 gen