Literature summary for 4.2.1.22 extracted from

Wang, L.; Chen, X.; Tang, B.; Hua, X.; Klein-Szanto, A.; Kruger, W.D.
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model (2005), Hum. Mol. Genet., 14, 2201-2208.

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Protein Variants

Protein Variants	Comment	Organism
I278T	mutant enzyme is inactive, although transgenic mouse line that expresses I278T possess the ability to rescue the neonatal lethality associated with homozygosity for the Cbs- allele	Homo sapiens
I278T/T424N	mutant enzyme is inactive, although transgenic mouse line that expresses I278T/T424N possess the ability to rescue the neonatal lethality associated with homozygosity for the Cbs- allele	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	the enzyme may have additional in vivo functions beyond its role as a homocysteine metabolizing enzyme	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	the enzyme may have additional in vivo functions beyond its role as a homocysteine metabolizing enzyme	Homo sapiens	?	-	?

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Release 2023.1 (January 2023)