Gene: COQ8A

Alternate names for this Gene: ADCK3|ARCA2|CABC1|COQ10D4|COQ8|SCAR9

Gene Summary: This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: coenzyme Q8A

Type of Gene: protein-coding

Gene: PSEN2

Alternate names for this Gene: AD3L|AD4|CMD1V|PS2|STM2

Gene Summary: Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: presenilin 2

Type of Gene: protein-coding