Literature summary for 2.3.1.50 extracted from

Rotthier, A.; Penno, A.; Rautenstrauss, B.; Auer-Grumbach, M.; Stettner, G.M.; Asselbergh, B.; Van Hoof, K.; Sticht, H.; Levy, N.; Timmerman, V.; Hornemann, T.; Janssens, K.
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I (2011), Hum. Mutat., 32, E2211-E2225.

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Cloned(Commentary)

Cloned (Comment)	Organism
expressed in HEK293T cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A352V	subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein	Homo sapiens
C133W	subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein	Homo sapiens
S331F	subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein, accumulation of 1-deoxysphingoid bases in HEK293T cells expressing mutant protein	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O15269	-	-

Synonyms

Synonyms	Comment	Organism
serine palmitoyltransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	mutations in the SPTLC1 subunit associated with hereditary sensory and autonomic neuropathy type I	Homo sapiens

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Release 2023.1 (January 2023)