6bq1

Structural highlights

Disease

PI4KA_HUMAN Bilateral perisylvian polymicrogyria;Autosomal recessive spastic paraplegia type 84;Combined immunodeficiency-enteropathy spectrum. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.

Function

PI4KA_HUMAN Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.^{[1] [2]}

See Also

• Phosphatidylinositol 4-kinase

References

1. ↑ Gehrmann T, Gülkan H, Suer S, Herberg FW, Balla A, Vereb G, Mayr GW, Heilmeyer LM Jr. Functional expression and characterisation of a new human phosphatidylinositol 4-kinase PI4K230. Biochim Biophys Acta. 1999 Mar 25;1437(3):341-56. PMID:10101268 doi:10.1016/s1388-1981(99)00029-3
2. ↑ Nakatsu F, Baskin JM, Chung J, Tanner LB, Shui G, Lee SY, Pirruccello M, Hao M, Ingolia NT, Wenk MR, De Camilli P. PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity. J Cell Biol. 2012 Dec 10;199(6):1003-16. PMID:23229899 doi:10.1083/jcb.201206095