PITPNA
Description
The PITPNA (phosphatidylinositol transfer protein alpha) is a protein-coding gene located on chromosome 17.
Phosphatidylinositol transfer protein alpha isoform is a protein that in humans is encoded by the PITPNA gene. Phosphatidylinositol transfer proteins are a diverse set of cytosolic phospholipid transfer proteins that are distinguished by their ability to transfer phospholipids between membranes in vitro (Wirtz, 1991).
PITPNA catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes. It exhibits a preference for PI and PC containing shorter saturated or monosaturated acyl chains at the sn-1 and sn-2 positions. The preference order for PC is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 and for PI is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 > C20:3. {ECO:0000269|PubMed:10531358, ECO:0000269|PubMed:14962392, ECO:0000269|PubMed:15522822, ECO:0000269|PubMed:18636990, ECO:0000269|PubMed:22822086}
PITPNA is also known as HEL-S-36, PI-TPalpha, PITPN, VIB1A.
Associated Diseases
- thyroid gland adenocarcinoma
- type 2 diabetes mellitus
- spinocerebellar ataxia type 15/16
- amyotrophic lateral sclerosis
- spinocerebellar ataxia type 12
- spastic ataxia 2
- spinocerebellar ataxia type 20
- neurodegenerative syndrome due to cerebral folate transport deficiency
- spinocerebellar ataxia type 35
- dystonia 23
- tremor, hereditary essential, 6
