Gene: SPTLC2

Alternate names for this Gene: HSN1C|LCB2|LCB2A|NSAN1C|SPT2|hLCB2a

Gene Summary: This 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: serine palmitoyltransferase long chain base subunit 2

Type of Gene: protein-coding

rs17105886 in SPTLC2 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs267607089 in SPTLC2 gene and NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC PMID 26573920 2016 The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

PMID 24175284 2013 The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.

PMID 26681808 2016 HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.

PMID 20920666 2010 Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

PMID 23658386 2013 Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

PMID 29042446 2017 Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.