The gene CHM (choroideremia) is mapped to human chromosome Xq21.2. It encodes a 653 amino acid protein. It contains 15 exons spanning a length of 150kb.
Synonyms: Anti-Choroideraemia protein antibody produced in rabbit; Anti-REP-1 antibody produced in rabbit; Anti-Rab escort protein 1 antibody produced in rabbit; Anti-Rab proteins geranylgeranyltransferase component A 1 antibody produced in rabbit; Anti-TCD protein antibody produced in rabbit
Storage: -20C
Application: Anti-CHM antibody produced in rabbit, a Prestige Antibody, is developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org). Each antibody is tested by immunohistochemistry against hundreds of normal and disease tissues. These images can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. The antibodies are also tested using immunofluorescence and western blotting. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: CHM (choroideremia) gene encodes a protein that is also called as Rab proteins geranylgeranyltransferase component A 1. This subunit is a substrate-binding subunit of the Rab geranylgeranyl transferase (RGGT) holoenzyme. It binds unprenylated Rab proteins and presents them to the catalytic component B of Rab-GGTase. Alternatively, the subunit encoded by this gene first binds to RGGT, and this complex then binds and prenylates Rab proteins. These Rab proteins are small GTPases that function in regulating vesicular membrane traffic. Mutations in this gene can cause choroideremia, also referred to as tapetochoroidal dystrophy (TCD), that is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina.
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