Disease-gene associations mined from literature

Literature associating SPTLC2 and hereditary sensory and autonomic neuropathy type 1A

SPTLC2 [ENSP00000216484]

Serine palmitoyltransferase, long chain base subunit 2; 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-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Synonyms:  SPTLC2,  SPTLC2p,  hSPTLC2,  A0A024R6H1,  H0YJ96 ...

Linkouts:  STRING  Pharos  UniProt  OMIM