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Description

The RS1 gene (retinoschisin 1) [HGNC Gene ID:10457] is located on chromosome Xp22.13. This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008] [NCBI Gene ID:6247] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
RS1 gene
Part Display Name
RS1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-01-03
Construct for LOINC Short Name
RS1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34978-4
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https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34978-4

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)RS1 基因
Synonyms: RS;XLRS;XLRS1;性连锁性青年性视网膜分离症;视网膜分层剥离(X 染色体连锁, 青少年型) 1;视网膜分层剥离(X-连锁, 青少年型) 1;视网膜分裂(X 染色体连锁, 青少年型) 1;视网膜分裂(X-连锁, 青少年型) 1;视网膜劈裂(X 染色体连锁, 青少年型) 1;视网膜劈裂(X-连锁, 青少年型) 1;视网膜劈裂症(X 染色体连锁, 青少年型) 1;视网膜劈裂症(X-连锁, 青少年型) 1;视网膜裂(X 染色体连锁, 青少年型) 1;视网膜裂(X-连锁, 青少年型) 1
et-EEEstonian (Estonia)RS1 geen
es-ESSpanish (Spain)Gen RS1
it-ITItalian (Italy)RS1, gene
Synonyms: Gene RS1
tr-TRTurkish (Turkey)RS1 geni
ru-RURussian (Russian Federation)RS1 ген
nl-NLDutch (Netherlands)RS1-gen
Synonyms: RS1 gen
fr-FRFrench (France)RS1 gène
pl-PLPolish (Poland)RS1 gen
Synonyms: Gen RS1
el-GRGreek (Greece)Γονίδιο RS1
Synonyms: Γονίδιο RS1