Variant: rs775736341 

    present in Gene: SPART
    present in Chromosome: 13
    Position on Chromosome: 36335466
    Alleles of this Variant: AT/-

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.

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