Human Choroideremia (CHM) ELISA Kit | CHM elisa kit

Human Choroideremia (CHM) ELISA Kit

Cat. Num. AAA9301992

• Gene Names: CHM; TCD; GGTA; REP-1; DXS540; HSD-32
• Reactivity: Human
• Synonyms: Choroideremia (CHM); Human Choroideremia (CHM) ELISA Kit; CHM elisa kit

• Reactivity: Human
• Specificity: No significant cross-reactivity or interference between this analyte and analogues is observed.

• 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].
• Preparation and Storage: Store all reagents at 2-8 degree C

Related Product Information for CHM elisa kit

Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only! 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.

NCBI and Uniprot Product Information

• NCBI GI #: 119618965
• NCBI GeneID: 1121
• UniProt Accession #: P24386; O43732; A1L4D2
• Molecular Weight: 73,476 Da
• NCBI Official Full Name: choroideremia (Rab escort protein 1)
• NCBI Official Synonym Full Names: choroideremia (Rab escort protein 1)
• NCBI Official Symbol: CHM
• NCBI Official Synonym Symbols: TCD; GGTA; REP-1; DXS540; HSD-32
• NCBI Protein Information: rab proteins geranylgeranyltransferase component A 1; choroideremia protein
• UniProt Protein Name: Rab proteins geranylgeranyltransferase component A 1
• Protein Family: Rab proteins geranylgeranyltransferase component
• UniProt Gene Name: CHM
• UniProt Synonym Gene Names: REP1; TCD; REP-1
• UniProt Entry Name: RAE1_HUMAN

NCBI Description

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]

Uniprot Description

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