HK2 Antibody – Rabbit Polyclonal

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]

SERCA2: an intracellular pump located in the sarcoplasmic or endoplasmic reticula of muscle cells. Possesses a Ca(2+)-ATPase activity. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN. Two alternatively spliced isoforms have been described.

Protein type: Transporter, ion channel; Cell adhesion; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Endoplasmic reticulum; EC 3.6.3.8; Hydrolase

Chromosomal Location of Human Ortholog: 12q24.11

Cellular Component: endoplasmic reticulum membrane; sarcoplasmic reticulum membrane; membrane; sarcoplasmic reticulum; integral to plasma membrane; endoplasmic reticulum

Molecular Function: protein C-terminus binding; protein binding; enzyme binding; calcium-transporting ATPase activity; metal ion binding; calcium ion binding; ATP binding

Biological Process: cellular calcium ion homeostasis; ER-nuclear signaling pathway; endoplasmic reticulum calcium ion homeostasis; epidermis development; negative regulation of heart contraction; metabolic process; elevation of endoplasmic reticulum calcium ion concentration; positive regulation of heart rate; cell adhesion; blood coagulation; transmembrane transport; regulation of the force of heart contraction

Disease: Acrokeratosis Verruciformis; Darier-white Disease