LP71416-9
COL4A5 gene
Active
Description
The COL4A5 gene (collagen, type IV, alpha 5) [HGNC Gene ID:2207] is located on chromosome Xq22. This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] [NCBI Gene ID:1287] 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 Name
- COL4A5 gene
- Part Display Name
- COL4A5 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- COL4A5 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 |
|---|---|---|
| es-ES | Spanish (Spain) | Gen COL4A5 |
| it-IT | Italian (Italy) | COL4A5, gene Synonyms: Gene COL4A5 |
| et-EE | Estonian (Estonia) | COL4A5 geen |
| zh-CN | Chinese (China) | COL4A5 基因 Synonyms: ASLN; |
| tr-TR | Turkish (Turkey) | COL4A5 geni |
| ru-RU | Russian (Russian Federation) | COL4A5 ген |
| nl-NL | Dutch (Netherlands) | COL4A5-gen Synonyms: COL4A5 gen |
| el-GR | Greek (Greece) | Γονίδιο COL4A5 Synonyms: Γονίδιο COL4A5 |
LOINC Copyright
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