{{.infobox .infobox-gene}}
| Symbol | SLC33A1 |
| Full Name | Solute Carrier Family 33 Member 1 (Acetyl-CoA Transporter 1) |
| Chromosome | 3q27 |
| NCBI Gene ID | 9197 |
| OMIM | 603690 |
| Ensembl ID | ENSG00000116497 |
| UniProt ID | O15297 |
| Associated Diseases | Spastic paraplegia, Neurodegeneration, Charcot-Marie-Tooth disease |
The SLC33A1 gene encodes Acetyl-CoA Transporter 1 (AT-1), a membrane protein that mediates the transport of acetyl-CoA across cellular membranes [1]. Acetyl-CoA is a central metabolic intermediate required for acetylation reactions, lipid synthesis, and energy metabolism. AT-1 plays a critical role in shuttling acetyl-CoA between cellular compartments, particularly for the acetylation of proteins and lipids [2].
Proper acetyl-CoA transport is essential for numerous cellular processes, and mutations in SLC33A1 are associated with hereditary spastic paraplegia and other neurological disorders [3].
AT-1 (also known as SLC33A1) facilitates the transport of acetyl-CoA across the endoplasmic reticulum (ER) and Golgi membranes. This transport is essential for:
AT-1 is expressed in various tissues with high expression in:
Protein acetylation is a critical post-translational modification affecting:
AT-1 is crucial for proper myelination in the central and peripheral nervous system. The transporter supplies acetyl-CoA for:
Mutations in SLC33A1 cause a form of hereditary spastic paraplegia (HSP), characterized by:
The disease mechanism involves impaired acetyl-CoA transport leading to:
SLC33A1 variants have been implicated in Charcot-Marie-Tooth disease (CMT), a peripheral neuropathy. The transporter's role in peripheral nerve myelination explains this association [10].
While primarily associated with developmental disorders, AT-1 dysfunction may contribute to:
AT-1 is central to acetyl-CoA homeostasis:
Dysregulated acetyl-CoA transport may contribute to:
Understanding AT-1 function has therapeutic implications: