NP_001029139.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,530 Da
NCBI Official Full Name
adenylate kinase 2, mitochondrial isoform b
NCBI Official Synonym Full Names
adenylate kinase 2
NCBI Protein Information
adenylate kinase 2, mitochondrial
UniProt Protein Name
Adenylate kinase 2, mitochondrial
UniProt Synonym Protein Names
ATP-AMP transphosphorylase 2
UniProt Synonym Gene Names
UniProt Comments for AK2
AK2: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Plays a key role in hematopoiesis. Defects in AK2 are the cause of reticular dysgenesis (RDYS); also known as aleukocytosis. RDYS is the most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal.In addition, affected newborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, in which its absence can not be compensated by AK1. Belongs to the adenylate kinase family. AK2 subfamily. 6 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.7.4.3; Kinase, other; Mitochondrial; Nucleotide Metabolism - purine
Chromosomal Location of Human Ortholog: 5q36
Cellular Component: cytoplasm; cytosol; mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrion; nucleus
Molecular Function: adenylate kinase activity; ATP binding; nucleobase-containing compound kinase activity
Biological Process: adenine metabolic process; ADP biosynthetic process; AMP metabolic process; ATP metabolic process; brain development; dATP metabolic process; liver development; nucleotide phosphorylation; oxidative phosphorylation
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with AK2 elisa kit
Pathways associated with AK2 elisa kit
Diseases associated with AK2 elisa kit
Organs/Tissues associated with AK2 elisa kit
|