GLUD1/GDH1 is a mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha keto-glutarate which is an important intermediate in the TCA cycle. GLUD1/GDH1, because it metabolizes glutamate which is also an important neurotransmitter, p
GLUD1/GDH1 is a mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha keto-glutarate which is an important intermediate in the TCA cycle. GLUD1/GDH1, because it metabolizes glutamate which is also an important neurotransmitter, plays a role in learning and memory reactions mediated by glutamate, as well as certain neurodegenerative disorders associated with altered glutamate metabolism. Mutations in GLUD1/GDH1 are the most common cause of persistent hyperinsulinism hypoglycemia (HHF6). Interestingly GLUD1/GDH1 may also be involved in glutamate toxicity that accompanies aging. It appears that a decline in GLUD1/GDH1 function, even in over expressing mice, leads to buildup of glutamate and subsequent glutamate induced neurotoxicity.
Pituitary homeobox 1 (Ptx1; also known as Paired-like homeodomain transcription factor 1, Pituitary homeobox 1, or Hindlimb-expressed homeobox protein backfoot) is a nuclear transcription factor encoded by the Pitx1 (also known as Bft, Potx, Ptx1) ge
The DNA-binding factor TFE3 contains adjacent helix-loop-helix (HLH) and leucine zipper (LZ) domains flanked by an upstream basic region. These protein motifs are frequently observed in other transcription factors and are particularly common to membe
RNA-binding protein with multiple splicing (UniProt Q93062; also known as Heart and RRM expressed sequence, Hermes, RBP-MS) is encoded by the RBPMS (also known as HERMES) gene (Gene ID 11030) in human. RBPMS is a member of the RRM (RNA recognition mo
RAB21 is a member of the small GTPase superfamily that is critically important in the recycling of integrin protein receptor complexes and their internalization. Thus, RAB21 is important in cell adhesion and migration of cells, as well as the proper
Prostate and testis expressed protein 1 (PATE1) is a secreted protein that, as the name suggests, is expressed exclusively in the prostate and testis. PATE1 is up regulated in the prostate epithelial cells during cancer, and its extreme specificity o
Human Insulin-like Growth Factor 2 (IGF2) contains 67 amino acids and shares similar structural features with IGF1, including a 62% sequence homology. In human plasma, IGF1 and IGF2 are associated with IGF-binding proteins that transport the polypept
GHRHR is the receptor for growth hormone release hormone (GRF, GHRF). GHRF is first produced between 18 and 29 weeks of gestation and is responsible for the production of growth hormone (GH), and GH is required for proper normal postnatal growth, bon
CH25H , also known as Cholesterol 25-hydroxylase, Cholesterol 25-monooxygenase, h25OH, and encoded by the gene name CH25H, is a member of the sterol desaturase family. CH25H catalyzes the formation of 25-hydroxycholesterol from cholesterol, which in
Beta-catenin-interacting protein 1 (UniProt Q9NSA3; also known as Beta-catenin-interacting protein ICAT, Inhibitor of beta-catenin and Tcf-4) is encoded by the CTNNBIP1 (also known as ICAT) gene (Gene ID 56998) in human. Inhibitor of beta-catenin and