SPART spartin
Gene ID: 23111, updated on 10-Oct-2024Gene type: protein coding
Also known as: SPG20; TAHCCP1
- See all available tests in GTR for this gene
- Go to complete Gene record for SPART
- Go to Variation Viewer for SPART variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Troyer syndrome | See labs |
Genomic context
- Location:
- 13q13.3
- Sequence:
- Chromosome: 13; NC_000013.11 (36301638..36370180, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPART variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SPG20 database
- Variation ViewerRelated Variants
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