SH3 and Px Domain-Containing Protein 2b (SH3PXD2B) Antibody – Rabbit Polyclonal

This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome. [provided by RefSeq]

SH3PXD2B: Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation. Defects in SH3PXD2B are the cause of Frank-Ter Haar syndrome (FTHS). It is a syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. Belongs to the SH3PXD2 family.

Protein type: Lipid-binding

Chromosomal Location of Human Ortholog: 5q35.1

Cellular Component: cell projection; cytoplasm; podosome; cell junction

Molecular Function: protein binding; phosphatidylinositol-5-phosphate binding; SH2 domain binding; phosphatidylinositol 3-phosphate binding

Biological Process: extracellular matrix disassembly; eye development; heart development; superoxide metabolic process; positive regulation of fat cell differentiation; cell differentiation; skeletal development

Disease: Frank-ter Haar Syndrome