CHM Rabbit monoclonal antibody

Size

POA

SKU:: A9378
Additional Names:: CHM|DXS540|GGTA|HSD-32|REP-1|TCD
Application:: ELISA, WB
Molecular Weight:: 101kDa
Species Reactivity:: Human
Purification:: Affinity Purified
Storage Conditions:: -20[o]C Avoid freeze/thaw cycles.
Supplier:: Abclonal
Host:: Rabbit
Reactivities:: Human
Immunogen:: Synthetic peptide. This information is considered to be commercially sensitive.
Formulation:: Unmodified
Sequence:: MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEV
Uniprot:: P24386
Synonyms:: CHM, Rab escort protein 1;choroideremia (Rab escort protein 1);Choroideremia protein;DXS540;GGTA;HSD-32;Rab escort protein 1;rab proteins geranylgeranyltransferase component A 1;REP-1;TCD;TCD protein
Extra Details:: This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene.