puratrophin-1 (pleckstrin homology domain-containing family G member 4, purkinje cell atrophy-associated protein 1, PLEKHG4, PRTPHN1)

Function

• role in intracellular signaling & cytoskeleton dynamics at the Golgi (putative)

Structure

• contains 1 DH domain (DBL-homology domain)
• contains 1 PH domain

Alternative splicing

named isoforms=3

Expression

• expressed in kidney, Leydig cells in testis, epithelial cells in prostate & Langerhans islet in the pancreas
• isoform 1 & isoform 3 are expressed in Purkinje cells > other neurons
• widely expressed at low levels

Pathology

• defects in PLEKHG4 are initially thought to be associated with spinocerebellar ataxia, Holmes type (SCA31) but it is not; but rather associated with the BEAN gene

More general terms

• pleckstrin homology domain containing family

Database

• OMIM: https://mirror.omim.org/entry/117210
• UniProt: http://www.uniprot.org/uniprot/Q58EX7.html