Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

doi:10.1007/BF00711354

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Article

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

Journal of inherited metabolic disease - 1 Jan 1994

Kraus J P

Abstract excerpt

Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria in humans. The human gene maps to chromosome 21q22.3 and encodes the CBS subunit of 551 amino acid residues (63kDa). CBS, a tetramer of these subunits, binds its two substrates, homocysteine and serine, and th...

Topics

Amino Acid Sequence
Chromosomes, Human, Pair 21
Cystathionine beta-Synthase
Homocystinuria
Humans
Molecular Sequence Data
Mutation
Phenotype

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