DISEASES

Disease-gene associations mined from literature

Literature associating SPTLC1 and Charcot-Marie-Tooth disease

SPTLC1 [ENSP00000262554]

Serine palmitoyltransferase 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 . Required for adipocyte cell viability and metabolic homeostasis (By similarity).

Synonyms:  SPTLC1,  SPTLC1p,  hSPTLC1,  A0A024R277,  A0A2R8Y4S0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM