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Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cle

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.