This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated. View Details
Immunogen sequence: SPQQEPQGCR CPLDRFQDFA LIDAPTLEDE PQEGQQWEIA LPNNWQRYPR TKVEEKEASD TGGEEPEKEE EDLYYGLPDG AGDL
Highest antigen sequence identity to the following orthologs: Mouse - 53%, Rat - 54%.
ITPK1 encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: autosomal recessive 73; BART; Bartter syndrome, infantile, with sensorineural deafness (Barttin); Barttin; barttin CLCNK-type chloride channel accessory beta subunit; deafness; deafness, autosomal recessive 73; DFNB73
Gene Aliases: BART; BSND; DFNB73
UniProt ID: (Human) Q8WZ55
Entrez Gene ID: (Human) 7809