Version 2.78

Description

The CBS gene (cystathionine-beta-synthase) [HGNC Gene ID:1550] is located on chromosome 21q22.3. The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:875] 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
CBS gene
Part Display Name
CBS gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
CBS gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19676-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19676-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CBS 基因
Synonyms: HIP4;丙氨酸丁氨酸硫醚-beta-合酶;丙氨酸丁氨酸硫醚-β-合酶;吡哆醇反应性高胱氨酸尿症;胱硫醚-beta-合酶;胱硫醚-β-合酶
et-EE Estonian (Estonia) CBS geen
es-ES Spanish (Spain) Gen CBS
it-IT Italian (Italy) CBS, gene
Synonyms: Gene CBS
tr-TR Turkish (Turkey) CBS geni
ru-RU Russian (Russian Federation) CBS ген
nl-NL Dutch (Netherlands) CBS-gen
Synonyms: CBS gen