Cystathionine beta-synthase

Protein · UniProt

Cystathionine beta-synthase

Gene

CBS

Organism

Homo sapiens (Human)

Length

551 aa

Molecular mass

60,587 Da

Evidence

1: Evidence at protein level

Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:20506325, PubMed:23974653, PubMed:23981774). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity)

• PHASE3RECRUITING
  A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care TreatmentTravere Therapeutics, Inc. · NCT06247085
• PHASE3ENROLLING_BY_INVITATION
  A Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)Travere Therapeutics, Inc. · NCT06431893
• RECRUITING
  Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)Travere Therapeutics, Inc. · NCT02998710
• PHASE1/PHASE2TERMINATED
  A Multiple Ascending Dose Study of ACN00177 (Pegtarviliase) in Subjects With CBS DeficiencyAeglea Biotherapeutics · NCT05154890
• PHASE1/PHASE2ACTIVE_NOT_RECRUITING
  Pegtibatinase As an Enzyme Therapy for Patients with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)Travere Therapeutics, Inc. · NCT03406611
• PHASE1/PHASE2COMPLETED
  Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineUniversity of Colorado, Denver · NCT01192828

via ClinicalTrials.gov

Wikidata facts

Instance of

protein

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