Gene: PDSS1

Alternate names for this Gene: COQ1|COQ10D2|COQ1A|DPS|SPS|TPRT|TPT|TPT 1|hDPS1

Gene Summary: The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency.

Gene is located in Chromosome: 10

Location in Chromosome : 10p12.1

Description of this Gene: decaprenyl diphosphate synthase subunit 1

Type of Gene: protein-coding

Gene: ABI1

Alternate names for this Gene: ABI-1|ABLBP4|E3B1|NAP1BP|SSH3BP|SSH3BP1

Gene Summary: This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14.

Gene is located in Chromosome: 10

Location in Chromosome : 10p12.1

Description of this Gene: abl interactor 1

Type of Gene: protein-coding