Gene: SPG11

Alternate names for this Gene: ALS5|CMT2X|KIAA1840

Gene Summary: The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.1

Description of this Gene: SPG11 vesicle trafficking associated, spatacsin

Type of Gene: protein-coding

Gene: EIF3J

Alternate names for this Gene: EIF3S1|eIF3-alpha|eIF3-p35

Gene Summary: This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.1

Description of this Gene: eukaryotic translation initiation factor 3 subunit J

Type of Gene: protein-coding

rs200079802 in SPG11;EIF3J gene and Spastic paraplegia 11, autosomal recessive PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.