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SPTC2 Rabbit Polyclonal Antibody, 50ul Low retention tips Mutations in this gene have

SKU: 35376678356

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SPTC2 Rabbit Polyclonal Antibody, 50ul Low retention tips Mutations in this gene haveThis gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase which consists of two different subunits is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal 5 prime phosphate dependent condensation of L serine and palmitoyl CoA to 3 oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I.

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Description

Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes

The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase

Interacts with BNLF1

|PTM:Phosphorylation by PKB/AKT1 inhibits transcriptional activity and is responsible for cytoplasmic localization

The protein encoded by this gene contains a UBA (ubiquitin associated) domain

SPTC2 Rabbit Polyclonal Antibody, 50ul Low retention tips Mutations in this gene haveThis gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase which consists of two different subunits is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal 5 prime phosphate dependent condensation of L serine and palmitoyl CoA to 3 oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I.

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