Disease-gene associations mined from literature

Literature associating SPTLC3 and hereditary sensory and autonomic neuropathy type 1A

SPTLC3 [ENSP00000381968]

Serine palmitoyltransferase, long chain base subunit 3; Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, while the SPTLC1-SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference.

Synonyms:  SPTLC3,  SPTLC3p,  hSPTLC3,  B1AKS2,  B1AKS3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM