Gene: COA8

Alternate names for this Gene: APOP|APOP1|APOPT1|C14orf153|MC4DN17

Gene Summary: This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.33

Description of this Gene: cytochrome c oxidase assembly factor 8

Type of Gene: protein-coding

Gene: KLC1

Alternate names for this Gene: KLC|KNS2|KNS2A

Gene Summary: Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named 'kinesin 2', this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.33

Description of this Gene: kinesin light chain 1

Type of Gene: protein-coding