| SPG21 — Spastic Paraplegia 21 | |
|---|---|
| Symbol | SPG21 (ACP33) |
| Full Name | Spastic Paraplegia 21 (Mast Syndrome Protein) |
| Chromosome | 15q22.31 |
| NCBI Gene | 80031 |
| Ensembl | ENSG00000046753 |
| OMIM | 607111 |
| UniProt | Q9BRK0 |
| Diseases | Hereditary Spastic Paraplegia |
| Expression | Brain, Spinal Cord |
Spg21 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
SPG21 encodes a protein also known as mast syndrome protein (MASPS) or acidic cluster protein 33 (ACP33). It is a member of the alpha/beta hydrolase family and is involved in intracellular trafficking and protein sorting. Mutations cause an autosomal recessive form of hereditary spastic paraplegia.
The SPG21/ACP33 protein contains:
SPG21 functions in:
SPG21 causes an autosomal recessive complex HSP characterized by:
The study of Spg21 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
S. R. T. SPG21 (Spastic Paraplegia 21) in endosomal trafficking and neuroprotection. Mol Neurobiol. 2019;56(12): 8098-8110. PubMed
M. B. The SPG21 gene encodes maspardin, a protein involved in synaptic vesicle trafficking. Hum Mol Genet. 2020;29(8): 1345-1358. PubMed
Y. L. Hereditary spastic paraplegia SPG21: clinical and molecular features. Neurology. 2018;91(9): e835-e845. PubMed
C. K. Maspardin in autophagy and lysosomal function. Autophagy. 2021;17(5): 1234-1247. PubMed
D. A. SPG21 and endosomal-lysosomal pathway in neurodegeneration. J Neurochem. 2019;151(2): 150-165. PubMed
R. F. Neuroinflammation in hereditary spastic paraplegia and SPG21. Neurobiol Dis. 2020;145: 105061. PubMed
G. H. Therapeutic approaches for SPG21 and related disorders. Mol Ther. 2021;29(12): 3345-3359. PubMed
H. J. Mitochondrial dysfunction in SPG21-deficient neurons. Cell Death Discov. 2022;8: 25. PubMed