Gene: LOC107985154
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: TUBB6
Alternate names for this Gene: FPVEPD|HsT1601|TUBB-5
Gene Summary:
Gene is located in Chromosome: 18
Location in Chromosome : 18p11.21
Description of this Gene: tubulin beta 6 class V
Type of Gene: protein-coding
Gene: AFG3L2
Alternate names for this Gene: OPA12|SCA28|SPAX5
Gene Summary: This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders.
Gene is located in Chromosome: 18
Location in Chromosome : 18p11.21
Description of this Gene: AFG3 like matrix AAA peptidase subunit 2
Type of Gene: protein-coding
rs151344514 in
LOC107985154;TUBB6;AFG3L2 gene and
SPINOCEREBELLAR ATAXIA 28
PMID 24293060 2014 A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
PMID 26677414 2015 Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
PMID 20354562 2010 Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
PMID 20208537 2010 Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
PMID 29053796 2017 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.