PLEKHA1, Official Symbol PLEKHA1provided by HGNC Official Full Name pleckstrin homology domain containing A1provided by HGNC Primary source HGNC:HGNC:14335 See related Ensembl:ENSG00000107679 MIM:607772; AllianceGenome:HGNC:14335 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TAPP1 Summary This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in skin (RPKM 23.3), lung (RPKM 17.3) and 24 other tissues See more Orthologs mouse all