INPP4A

Description

The INPP4A (inositol polyphosphate-4-phosphatase type I A) is a protein-coding gene located on chromosome 2.

INPP4A is a gene that encodes the inositol polyphosphate 4-phosphatase type I, an enzyme involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate.

INPP4A catalyzes the removal of the phosphate group at the 4-position of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). It also catalyzes the hydrolysis of inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate. INPP4A antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides, which regulates cell cycle progression and cell survival. INPP4A may protect neurons from excitotoxic cell death by regulating the synaptic localization of N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current.

INPP4A is also known as INPP4, TVAS1.

Associated Diseases

• dyskeratosis congenita
• endometrial cancer
• spinocerebellar ataxia type 12
• spinocerebellar ataxia type 35
• spinocerebellar ataxia type 30
• spinocerebellar ataxia type 17
• infantile-onset autosomal recessive nonprogressive cerebellar ataxia
• spinocerebellar ataxia type 5