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This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2

Vitamin D Binding Protein is a secreted multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and urine, and on the surface of many cell types. In plasma, it carries the vitamin D sterols and prevents polymerization of actin by binding its monomers. DBP associates with membrane bound immunoglobulin on the surface of B lymphocytes and with IgG fc receptor on the membranes of T lymphocytes.

Predicted to enable 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity. Involved in substantia nigra development. Located in several cellular components, including extracellular space; microtubule; and plasma membrane. Implicated in hypomyelinating leukodystrophy 20; multiple sclerosis; and schizophrenia. Biomarker of alcoholic liver cirrhosis; multiple sclerosis; and restless legs syndrome. [provided by Alliance of Genome Resources, Nov 2021]

ATP dependent calcium pumps are responsible, in part, for the maintenance of low cytoplasmic free calcium concentrations. The ATP pumps that reside in intracellular organelles are encoded by a family of structurally related enzymes, termed the sarcoplasmic or endoplasmic reticulum calcium (SERCA) ATPases. The SERCA1 gene is exclusively expressed in type II (fast) skeletal muscle. The SERCA2 gene is subject to tissue dependent processing which is responsible for the generation of SERCA2a muscle-

The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Belongs to the parvalbumin family. Contains 2 EF-hand domains. This protein binds two calcium ions.

Parkinson's Disease, the second most common neurodegenerative disease after Alzheimer's Disease, is characterized by the loss of dopaminergic neurons and the presence of Lewy bodies (comprised of alpha synuclein and parkin inclusions). Autosomal Recessive Juvenile Parkinsonism (AR-JP) is a recently described form of Parkinson's Disease that has been linked to a gene that codes for parkin. Parkin, a 52 kDa protein, has a suggested role in the ubiquitin/proteasome pathway for protein degrada