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Description

The VPS13B gene (vacuolar protein sorting 13 homolog B (yeast)) [HGNC Gene ID:2183] is located on chromosome 8q22.2. This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:157680] 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
VPS13B gene
Part Display Name
VPS13B gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2007-03-15
Construct for LOINC Short Name
VPS13B gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP62804-7
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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)VPS13B 基因
Synonyms: CHS1;COH1;Cohen 综合征蛋白 1;Cohen 综合征蛋白 1（Cohen syndrome protein 1）;空泡蛋白分类 13B;空泡蛋白分类 13B（Vacuolar protein sorting 13B）
et-EEEstonian (Estonia)VPS13B geen
es-ESSpanish (Spain)Gen VPS13B
it-ITItalian (Italy)VPS13B, gene
Synonyms: Gene VPS13B
tr-TRTurkish (Turkey)VPS13B geni
ru-RURussian (Russian Federation)VPS13B ген
nl-NLDutch (Netherlands)VPS13B-gen
Synonyms: VPS13B gen
fr-FRFrench (France)VPS13B gène
pl-PLPolish (Poland)VPS13B gen
Synonyms: Gen VPS13B
el-GRGreek (Greece)Γονίδιο VPS13B
Synonyms: Γονίδιο VPS13B