Gene: PLEKHA4

Alternate names for this Gene: PEPP1

Gene Summary: This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: pleckstrin homology domain containing A4

Type of Gene: protein-coding

rs56104184 in PLEKHA4 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.