Gene: SPART

Alternate names for this Gene: SPG20|TAHCCP1

Gene 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).

Gene is located in Chromosome: 13

Location in Chromosome : 13q13.3

Description of this Gene: spartin

Type of Gene: protein-coding

rs775736341 in SPART gene and Dysmorphic features PMID 20437587 2010 Developmental and degenerative features in a complicated spastic paraplegia.

PMID 15372254 2004 Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

PMID 19307600 2009 A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover.

PMID 26003402 2015 Recurrent null mutation in SPG20 leads to Troyer syndrome.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 18997780 2008 Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.

PMID 6022528 1967 The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.

PMID 12134148 2002 SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

PMID 24523286 2014 The role of spartin and its novel ubiquitin binding region in DALIS occurrence.

PMID 20719964 2010 SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.

rs1399213398 in SPART gene and Troyer syndrome PMID 12134148 2002 SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

PMID 27539578 2017 Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

PMID 28875386 2017 Novel SPG20 mutation in an extended family with Troyer syndrome.

PMID 20437587 2010 Developmental and degenerative features in a complicated spastic paraplegia.