LP31873-0
GPC3 gene
Active
Description
The GPC3 gene (glypican 3) [HGNC Gene ID:4451] is located on chromosome Xq26.1. Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] [NCBI Gene ID:2719] 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
- GPC3 gene
- Part Display Name
- GPC3 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- GPC3 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | GPC3 基因 Synonyms: DGSX; |
et-EE | Estonian (Estonia) | GPC3 geen |
es-ES | Spanish (Spain) | Gen GPC3 |
it-IT | Italian (Italy) | GPC3, gene Synonyms: Gene GPC3 |
tr-TR | Turkish (Turkey) | GPC3 geni |
ru-RU | Russian (Russian Federation) | GPC3 ген |
nl-NL | Dutch (Netherlands) | GPC3-gen Synonyms: GPC3 gen |
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