Disease-gene associations mined from literature

Literature associating SPTLC1 and hereditary sensory and autonomic neuropathy type 1A

SPTLC1 [ENSP00000262554]

Serine palmitoyltransferase, long chain base subunit 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 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-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.

Synonyms:  SPTLC1,  SPTLC1p,  hSPTLC1,  A0A024R277,  B4DR90 ...

Linkouts:  STRING  Pharos  UniProt  OMIM