SPTLC1 Gene

Last updated on: 17.12.2021

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Definition
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The SPTLC1 gene, located on chromosome 9q22.31, encodes a member of the class II pyridoxal phosphate-dependent aminotransferase family. The encoded protein is the long-chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA with pyridoxal-5'-phosphate to 3-oxosphinganine and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene are associated with the clinical picture of hereditary sensory neuropathy type 1(acrosteopathy ulcero-mutilans familiaris type I). Alternatively spliced variants encoding different isoforms have been identified.

General information
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Serine palmitoyltransferase (SPT) consists of a catalytic heterodimeric complex (serine palmitoyltransferase (SPT) complex) formed with SPTLC2 or SPTLC3. The composition of the serine palmitoyltransferase (SPT) complex determines substrate preference.

For example, the SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16 CoA substrate.

The SPTLC1-SPTLC3-SPTSSA isoenzyme shows a preference for both C14-CoA and C16-CoA .

The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate.

The SPTLC1-SPTLC3-SPTSSB isoenzyme shows a broader range of acyl-CoAs with no obvious preference.

The serine palmitoyltransferase complex is essentialfor adipocyte viability and metabolic homeostasis.

Literature
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  1. Auer-Grumbach M (2004) Hereditary sensory neuropathies. Drugs Today (Barc) 40:385-394.
  2. Johnson JO et al (2012) Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol 78:1236-1248.

Last updated on: 17.12.2021