This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009].

NDUFA1 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1) is an essential component of the multisubunit NADH ubiquinone oxidoreductase (complex 1), the first enzyme complex in the mitochondrial respiratory chain. Complex I transfers electrons from NADH to the respiratory chain via ubiquinone.

Intracellular calcium concentrations are regulated by a family of inositol phosphates, which act as second messengers in the calcium cell signaling pathway. ITPK1 (inositol 1,3,4-triphosphate 5/6 kinase), also known as ITRPK1, is a 414 amino acid monomer that belongs to the ITPK1 family and exists as two alternatively spliced isoforms. Widely expressed, ITPK1 is found at highest levels in brain, followed by heart, skeletal muscle, kidney, pancreas, liver, placenta and lung. ITPK1 contains one

This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP prote