DISEASES

Disease-gene associations mined from literature

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

SPTSSA [ENSP00000298130]

Small subunit of serine palmitoyltransferase A; Stimulates the activity of serine palmitoyltransferase (SPT). 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.

Synonyms:  SPTSSA,  Q969W0,  C14orf147,  Q969W0p,  hQ969W0 ...

Linkouts:  STRING  Pharos  UniProt