SPTLC2 Antibody

1. 2 families had late-onset autosomal dominant HSAN1C caused by a new variant in SPTLC2, c.547C>T, p.(Arg183Trp). The variant changed a conserved amino acid. PMID: 26573920
2. The activities of the hLCB2a mutants were measured in the presence of ssSPTa and ssSPTb and was found that all decrease enzyme activity. PMID: 24175284
3. Mutations in SPTLC2 are associated with increased deoxySL formation causing hereditary sensory and autonomic neuropathy type 1 (HSANI) in a familial study. PMID: 23658386
4. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. PMID: 20920666
5. results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies. PMID: 12207934
6. an increase in transepidermal water loss is an obligatory trigger for the upregulation of serine palmitoyltransferase mRNA expression in human epidermis PMID: 12445191
7. Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa. PMID: 17331073
8. discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting that there are 4 distinct human SPT isozymes. PMID: 19416851

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HGNC: 11278

OMIM: 605713

KEGG: hsa:9517

STRING: 9606.ENSP00000216484

UniGene: Hs.435661