LP34681-4
COL5A1 gene
Active
Description
The COL5A1 gene (collagen, type V, alpha 1) [HGNC Gene ID:2209] is located on chromosome 9q34.2-q34.3. This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] [NCBI Gene ID:1289] 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
- COL5A1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-10-28
- Construct for LOINC Short Name
- COL5A1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | COL5A1 基因 Synonyms: 胶原, V 型, alpha 1 基因; |
| et-EE | Estonian (Estonia) | COL5A1 geen |
| es-ES | Spanish (Spain) | Gen COL5A1 |
| it-IT | Italian (Italy) | COL5A1, gene Synonyms: Gene COL5A1 |
| tr-TR | Turkish (Turkey) | COL5A1 geni |
| ru-RU | Russian (Russian Federation) | COL5A1 ген |
| nl-NL | Dutch (Netherlands) | COL5A1-gen Synonyms: COL5A1 gen |
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