ELISA/assay

Human Choroideremia (CHM) ELISA Kit

MBS9301992

48-Strip-Wells

470 USD

ELISA Kit

Human Choroideremia (CHM) ELISA Kit

[Choroideremia (CHM)]

[choroideremia (Rab escort protein 1); Rab proteins geranylgeranyltransferase component A 1; rab proteins geranylgeranyltransferase component A 1; choroideremia protein; choroideremia (Rab escort protein 1); Choroideremia protein; Rab escort protein 1; REP-1; TCD protein]

[CHM]

[CHM; CHM; TCD; GGTA; REP-1; DXS540; HSD-32; REP1; TCD; REP-1]

RAE1_HUMAN

Human

No significant cross-reactivity or interference between this analyte and analogues is observed.

Store all reagents at 2-8 degree C

Samples: Body fluids, tissue homogenates, secretions or feces samples. Assay Type: Quantitative Sandwich. Detection Range: 31.2 pg/ml - 1000 pg/ml. Sensitivity: 5.0 pg/ml.

Intra-assay Precision: Intra-assay CV (%) is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].

Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of CHM (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.

119618965

EAW98559.1

P24386

73,476 Da

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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

CHM: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Also a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation. Defects in CHM are the cause of choroideremia (CHM). An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. Belongs to the Rab GDI family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Transferase. Chromosomal Location of Human Ortholog: Xq21.2. Cellular Component: Rab-protein geranylgeranyltransferase complex; cytosol. Molecular Function: GTPase activator activity; Rab GTPase binding; Rab-protein geranylgeranyltransferase activity. Biological Process: protein geranylgeranylation; blood vessel development; visual perception; response to stimulus; protein targeting to membrane; positive regulation of GTPase activity. Disease: Choroideremia

48-Strip-Wells

470 USD

96-Strip-Wells

680

5x96-Strip-Wells

3100

10x96-Strip-Wells

6095