Anti-MTMR2 (aa 5-100) polyclonal antibody

Species Reactivity

Human

Immunogen

MTMR2 (NP_057240, 5 a.a. ~ 100 a.a) partial recombinant protein with GST tag. The sequence is SSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPDLRVL RESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGA

Conjugate

Alternative Names

MTMR2; myotubularin related protein 2; CMT4B; CMT4B1; myotubularin-related protein 2;

Entrez Gene ID

UniProt ID

Antigen Description

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.

Pathway

Metabolism; PI Metabolism; Synthesis of PIPs at the early endosome membrane;