Myotubularin Related Protein 5 (SBF1) Antibody – Rabbit Polyclonal

This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]

MTMR5: a pseudophosphatase and nuclear guanine nucleotide exchange factor (GEF) that activates RAB28, a small G protein of the Rab subfamily. Lacks several amino acids in the catalytic pocket, which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. Defects in MTMR5 are the cause of Charcot-Marie-Tooth disease type 4B3 (CMT4B3). Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system. Interacts with the SET domain of MLL1. Interacts with SUV39H1. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Two isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; GEFs, Rab; GEFs; Inhibitor

Chromosomal Location of Human Ortholog: 22q13.33

Cellular Component: integral to membrane; nucleus

Molecular Function: protein tyrosine/serine/threonine phosphatase activity; Rab guanyl-nucleotide exchange factor activity

Biological Process: spermatogenesis; protein amino acid dephosphorylation

Disease: Charcot-marie-tooth Disease, Type 4b3