SPART

Also known as SPARTIN, TAHCCP1, SPG20, spastic paraplegia 20 (Troyer syndrome)

Spartin is a protein that in humans is encoded by the SPG20 gene.

Gene data

SPART

Name: spartin
Type: protein-coding
Aliases: SPG20, TAHCCP1

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008].

via MyGene.info

Gene · Ensembl

spartin

Symbol: SPART
Biotype: Protein coding
Organism: Homo sapiens
Location: 13:36,301,638-36,370,217
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein SPG20 PDB 2dl1.png

Show 5 more facts

HomoloGene ID: 32243
exact match: identifiers.org/ncbigene/23111
genomic end: 36944317
genomic start: 36875775
cytogenetic location: 13q13.3

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Cognitive
Neurologic
Diagnostic Imaging
Through Lifespan
References
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Spartin is a protein that in humans is encoded by the SPG20 gene.

This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Spartin loss has been associated to mitochondrial dysfunction, impaired complex I activity and altered pyruvate metabolism. Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs.