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Article

Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.

Biochemistry - 14 Aug 2012

Smith Aaron T, Su Yang, Stevens Daniel J, Majtan Tomas, Kraus Jan P, Burstyn Judith N

Abstract excerpt

Cystathionine β-synthase (CBS) is an essential pyridoxal 5'-phosphate (PLP)-dependent enzyme of the transsulfuration pathway that condenses serine with homocysteine to form cystathionine; intriguingly, human CBS also contains a heme b cofactor of unknown function. Herein we describe the enzymatic and spectroscopic properties of a disease-associated R266K hCBS variant, which has an altered hydrogen-bonding...

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Share to Cystathionine beta-Synthase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22738154
DOI: 10.1021/bi300421z
PMCID: PMC3569099

Genes

CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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