Immunogen sequence: CQCYPKITFV PADSDFQGIL SPKAMGLLEN GLAAEMKSPS PQPPYVRLWE EAAYDQSLPD FSHIQMKVMS YSEDHRSLLA PEMGQPKLGT SDGGEGGPGD VQAWMEAAVV IHKGSDESEG ERRLTQSWPG PLACPQGPAP LASFQDDLDM DSSEGSSPNA SPHDREEACS PQQEPQGCRC PLDRFQDFAL IDAPTLEDEP QEGQQWEIAL PNNWQRYPRT KVEEKEASDT GGEEPEKEEE DLYYGLPDGA GDLLPDKELG FEPDTQG; Positive Samples: 293T, Rat liver, Rat kidney, Rat small intestine; Cellular Location: Cell membrane, Cytoplasm, Multi-pass membrane protein
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.
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Protein Aliases: Bartter syndrome, infantile, with sensorineural deafness (Barttin); Barttin; barttin CLCNK-type chloride channel accessory beta subunit; deafness, autosomal recessive 73
Gene Aliases: BART; BSND; DFNB73