LP36621-8
OCA2 gene
Active
Description
The OCA2 gene (oculocutaneous albinism II) [HGNC Gene ID:8101] is located on chromosome 15q. This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] [NCBI Gene ID:4948] 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
- OCA2 gene
- Part Display Name
- OCA2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-02-16
- Construct for LOINC Short Name
- OCA2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP36621-8 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP36621-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | OCA2 基因 Synonyms: BOCA; |
| es-ES | Spanish (Spain) | Gen OCA2 |
| it-IT | Italian (Italy) | OCA2, gene Synonyms: Gene OCA2 |
| et-EE | Estonian (Estonia) | OCA2 geen |
| tr-TR | Turkish (Turkey) | OCA2 geni |
| ru-RU | Russian (Russian Federation) | OCA2 ген |
| nl-NL | Dutch (Netherlands) | OCA2-gen Synonyms: OCA2 gen |
| el-GR | Greek (Greece) | Γονίδιο OCA2 Synonyms: Γονίδιο OCA2 |
LOINC Copyright
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