Aliases for IPPK Gene
External Ids for IPPK Gene
Previous HGNC Symbols for IPPK Gene
Previous GeneCards Identifiers for IPPK Gene
The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
GeneCards Summary for IPPK Gene
IPPK (Inositol-Pentakisphosphate 2-Kinase) is a Protein Coding gene. Diseases associated with IPPK include Lethal Congenital Contracture Syndrome 1 and Spastic Paraplegia 63, Autosomal Recessive. Among its related pathways are Inositol phosphate metabolism and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include inositol pentakisphosphate 2-kinase activity.
UniProtKB/Swiss-Prot Summary for IPPK Gene
Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis.