CBS (Gene)

Synonyms:CBS, CBSL, ENTREZ:875, HGNC:1550, HIP4, MIM:613381, NM_000071, NM_001178008, NM_001178009, NM_001320298, NM_001321072, NP_000062, NP_001171479, NP_001171480, NP_001307227, NP_001308001, XM_011529774, XM_011529777, XM_011529783, XM_017028491, XM_024452136, XM_024452137, XM_024452138, XM_024452139, XM_024452140, XP_011528076, XP_011528079, XP_011528085, XP_016883980, XP_024307904, XP_024307905, XP_024307906, XP_024307907, XP_024307908, XR_001754915, XR_001754916, XR_001754917, XR_002958634, cystathionine beta-synthase
Omim:OMIM:613381
Id:ENSG00000160200
Hgnc:HGNC:1550
Entrez:875
Description:cystathionine beta-synthase
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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CBS's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with CBS.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using CBS.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for CBS.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with CBS.

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