POMT1 Polyclonal Antibody, Cy3 Conjugated

Catalogue Number: BS-5952R-CY3-BSS

Manufacturer:Bioss Inc
Type:Polyclonal Primary Antibody - Conjugated
Alias:POMT1_HUMAN; Protein O-mannosyl-transferase 1; Dolichyl-phosphate-mannose--protein mannosyltransferase 1.
Shipping Condition:Blue Ice
Unit(s): 100 ul
Host name: Rabbit
Clone:
Isotype: IgG
Immunogen: KLH conjugated synthetic peptide derived from human POMT1
Application: ICC, IF, IHC-P, IHC-Fr

Description

Description: POMT1 (Protein O mannosyl transferase 1) is a multipass membrane protein that is found in the endoplasmic reticulum. POMT1 catalyses the transfer of mannosyl residues to the hydroxyl groups of serine or threonine residues. Enzymatic activity is dependent on co expression of POMT1 with POMT2. Defects in the POMT1 gene are associated with Walker-Warburg syndrome (WWS), a congential muscular dystrophy that is associated with mental retardation and is usually lethal within the first few months of life. Other defects in the POMT1 gene result in limb girdle muscular dystrophy type 2K (LGMD2K), which is associated with mild mental retardation. Studies in Drosophila suggest that mutation of POMT1 alters the efficacy of synaptic transmission and a change in subunit composition of post synaptic glutamate receptors at the neuromuscular junction. Missense mutations in POMT1 have been associated with glioneuronal and glial brain tumours.

Additional Text

Gene Name

POMT1

Gene ID

10585

Purification

Protein A purified

Concentration

1 ug/ul

Antibody Clonality

Polyclonal

Modification

Unmodified

Storage Note

Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.