Human choroideremia (Rab escort protein 1) ELISA Kit | CHM elisa kit

Human Rab proteins geranylgeranyltransferase component A 1, CHM ELISA Kit

Cat. Num. AAA2603021

• Gene Names: CHM; TCD; GGTA; REP-1; DXS540; HSD-32
• Reactivity: Human
• Synonyms: choroideremia (Rab escort protein 1); Human Rab proteins geranylgeranyltransferase component A 1; CHM ELISA Kit; CHM elisa kit

• Reactivity: Human
• Specificity: No cross-reaction with other factors.

• Samples: Serum, plasma or cell culture supernatant and organizations in the natural and recombinant CHM concentration
• Assay Type: Sandwich
• Detection Range: 20 ng/ml-0.312 ng/ml
• Sensitivity: 0.06 ng/ml.
• Intra-assay Precision: ? 8%
• Inter-assay Precision: ? 12%
• Preparation and Storage: Store all reagents at 2-8 degree C.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for CHM elisa kit

Principle of the Assay: This experiment use double-sandwich elisa technique and the ELISA Kit provided is typical. The pre-coated antibody is human CHM monoclonal antibody and the detecting antibody is polyclonal antibody with biotin labeled. Samples and biotin labeling antibody are added into ELISA plate wells and washed out with PBS or TBS. Then Avidin-peroxidase conjugates are added to ELISA wells in order; Use TMB substrate for coloring after reactant thoroughly washed out by PBS or TBS. TMB turns into blue in peroxidase catalytic and finally turns into yellow under the action of acid. The color depth and the testing factors in samples are positively correlated.

NCBI and Uniprot Product Information

• NCBI GI #: 9966761
• NCBI GeneID: 1121
• NCBI Accession #: NP_000381.1
• NCBI GenBank Nucleotide #: NM_000390.2
• UniProt Accession #: P24386; O43732; A1L4D2
• Molecular Weight: 73,476 Da
• NCBI Official Full Name: rab proteins geranylgeranyltransferase component A 1 isoform a
• 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
• 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