Literature summary for 2.3.1.50 extracted from

Rotthier, A.; Auer-Grumbach, M.; Janssens, K.; Baets, J.; Penno, A.; Almeida-Souza, L.; Van Hoof, K.; Jacobs, A.; De Vriendt, E.; Schlotter-Weigel, B.; Loescher, W.; Vondracek, P.; Seeman, P.; De Jonghe, P.; Van Dijck, P.; Jordanova, A.; Hornemann, T.; Timmerman, V.
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I (2010), Am. J. Hum. Genet., 87, 513-522.

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Cloned(Commentary)

Cloned (Comment)	Organism
subunit 2 expressed in HEK293 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G382V	subunit 2, activity affected, naturally occuring mutation, hereditary sensory and autonomic neuropathy type I, expression in HEK293 cells increases concentration of neurotoxic 1-deoxysphinganine	Homo sapiens
I504F	subunit 2, activity affected, naturally occuring mutation, hereditary sensory and autonomic neuropathy type I, expression in HEK293 cells increases concentration of neurotoxic 1-deoxysphinganine	Homo sapiens
V359M	subunit 2, activity affected, naturally occuring mutation, hereditary sensory and autonomic neuropathy type I, expression in HEK293 cells increases concentration of neurotoxic 1-deoxysphinganine	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
myriocin	-	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O15270 and Q9NUV7	subunit 2 and 3	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
L-serine + palmitoyl-CoA	-	Homo sapiens	CoA + 3-dehydro-D-sphinganine + CO2	-	?

Synonyms

Synonyms	Comment	Organism
serine palmitoyltransferase	-	Homo sapiens

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Release 2023.1 (January 2023)