Allograft Inflammatory Factor-1 (AIF1)or ionized calcium-binding adaptor molecule 1 (Iba1) is expressed selectively in microglia/macrophages and is a Ca2+-binding peptide produced by activated monocytes and microglial cells. It has been suggested that AIF1 expression is associated with chronic inflammatory processes. AIF1 is expressed by activated monocytes and might participate in a variety of pathogenic processes in the mammalian brain and in chronic transplant rejection. It has been show

This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished acti

The Presenilin 1 (PS1) and Presenilin 2 (PS2) transmembrane proteins are components of high molecular weight complexes. These complexes mediate proteolytic cleavage within the transmembrane domain of several proteins, including the ∫-Amyloid precursor protein (∫APP) and Notch. Missense mutations in the genes encoding the Presenilin proteins increase the proteolysis of ∫APP and results in the overproduction of the neurotoxic ∫-Amyloid peptide, which results in a condition associated with

This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009

Lysosomal protective protein/cathepsin A (PPCA) is a lysosomal serine carboxypeptidase that forms an intralysosomal enzyme complex with ?galactosidase and neuraminidase (NEU1). PPCA is synthesized as a 54 kDa precursor/zymogen, and proteolytically cleaved in the lysosome into a catalytically active 32 and 20 kDa two chain enzyme. The enzyme has cathepsin A activity at acidic pH but maintains also a deamidase/esterase activity at neutral pH. Furthermore, the human enzyme, purified from plate

Calretinin is a calcium-binding protein which is abundant in auditory neurons. It belongs to the calbindin family. Calbindin 2 (calretinin), closely related to calbindin 1, is an intracellular calcium-binding protein belonging to the troponin C superfamily. Calbindin 1 is known to be involved in the vitamin-D-dependent calcium absorption through intestinal and renal epithelia, while the function of neuronal calbindin 1 and calbindin2 is poorly understood. The sequence of the calbindin 2 cDNA