SPTLC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SPTLC1 wild-type allele is located in the vicinity of 9q22.2 and is approximately 84 kb in length. This allele, which encodes serine palmitoyltransferase 1 protein, is involved in the metabolism of lipids. Mutation of the gene is associated with hereditary sensory neuropathy type IA.

**Synonyms:** - HSAN1 - HSN1 - Hereditary Sensory Neuropathy, Type 1 Gene - LBC1 - LCB1 - SPT1 - SPTI - Serine Palmitoyltransferase, Long Chain Base Subunit 1 wt Allele - Serine Palmitoyltransferase, Long-Chain Base Subunit 1 Gene