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: 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

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

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Abnormal gallbladder function PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Abnormal ocular motility PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Acid reflux PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Arthralgia PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Birth length less than 3rd percentile PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Bradykinesia PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Coronary Artery Disease PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Deglutition Disorders PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Diplopia PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Fatigue PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Gait imbalance PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Hemiplegia/hemiparesis PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Hiatal Hernia PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Hypercalcemia PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Hypercalciuria PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Hypertensive disease PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Keratoconjunctivitis Sicca PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Leukoaraiosis PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Macular degeneration PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Muscle Weakness PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Neonatal respiratory distress PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Osteopenia PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Parotitis PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs387906889 in LOC107985154;AFG3L2;TUBB6 gene and SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE PMID 22022284 2011 Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and SPINOCEREBELLAR ATAXIA 28 PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

PMID 24293060 2014 A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.

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 26677414 2015 Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

PMID 29053796 2017 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

PMID 20208537 2010 Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Serum lipids high (finding) PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Slurred speech PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Small for gestational age (disorder) PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Tinnitus PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Vertigo PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Vitamin D Deficiency PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Xerostomia PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.