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FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]

Nuclear receptor and transcription factor; plays a role in development and maintenance of neurons synthesizing the neurotransmitter dopamine This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with

Pax genes contain paired domains with strong homology to genes in Drosophila which are involved in programming early development. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear, and central nervous system. More specifically, in human embryo sections, PAX2 is expressed in the optic vesicle and later in the retina, in the otic vesicle and later in the semicircular canals of the inner ear, and in mesonephros, metanephros, adrenals, spinal cord, and hindbrain. PA

Pax genes contain paired domains with strong homology to genes in Drosophila which are involved in programming early development. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear, and central nervous system. More specifically, in human embryo sections, PAX2 is expressed in the optic vesicle and later in the retina, in the otic vesicle and later in the semicircular canals of the inner ear, and in mesonephros, metanephros, adrenals, spinal cord, and hindbrain. PA

ERN2, endoplasmic reticulum to nucleus signaling 2, induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. It is pro-apoptotic and appears to play no role in the unfolded-protein response, unlike closely related proteins.

Mammalian ferritins consist of 24 subunits made up of two types of poly-peptide chains, ferritin heavy chain and ferritin light chain, which each have unique functions. Ferritin heavy chains catalyze the first step in iron storage, the oxidation of FeII, whereas ferritin light chains promote the nucleation of ferrihydrite, enabling storage of FeIII. The most prominent role of mamma-lian ferritins is to provide iron-buffering capacity to cells. In addition to iron buffering, heavy chain ferriti