LP101432-5
LCA gene
Active
Descriptions
Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia
The LCA gene (protein tyrosine phosphatase, receptor type, C) gene is located on chromosome 1q31-q32. The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012] [NCBI Gene ID:5788] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- LCA gene
- Part Display Name
- LCA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-08-02
- Construct for LOINC Short Name
- LCA gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | LCA 基因 Synonyms: Leber''s congenital amaurosis; |
| et-EE | Estonian (Estonia) | LCA geen |
| es-ES | Spanish (Spain) | Gen LCA |
| it-IT | Italian (Italy) | LCA, gene Synonyms: Gene LCA |
| tr-TR | Turkish (Turkey) | LCA geni |
| ru-RU | Russian (Russian Federation) | LCA ген |
| nl-NL | Dutch (Netherlands) | LCA-gen Synonyms: LCA gen |
| fr-FR | French (France) | LCA gène |
| pl-PL | Polish (Poland) | LCA gen Synonyms: Gen LCA; |
| el-GR | Greek (Greece) | Γονίδιο LCA Synonyms: Γονίδιο LCA |
LOINC Copyright
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