CHM anticorps
Aperçu rapide pour CHM anticorps (ABIN7880414)
Antigène
Voir toutes CHM AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
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Fonction
- CHM Antibody / Choroideremia protein
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Séquence
- QDQILENEEA IALSRKDKTI QHVEVFCYAS QDLHED
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Purification
- Antigen affinity purified
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Immunogène
- Amino acids QDQILENEEAIALSRKDKTIQHVEVFCYASQDLHED from the human protein were used as the immunogen for the CHM antibody.
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Isotype
- IgG
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Indications d'application
- Optimal dilution of the CHM antibody should be determined by the researcher.
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Restrictions
- For Research Use only
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Format
- Lyophilized
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Buffer
- 0.5 mg/mL if reconstituted with 0.2 mL sterile DI water
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Stock
- 4 °C,-20 °C
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Stockage commentaire
- After reconstitution, the CHM antibody can be stored for up to one month at 4oC. For long-term, aliquot and store at -20oC. Avoid repeated freezing and thawing.
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- CHM (Choroideremia (Rab Escort Protein 1) (CHM))
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Autre désignation
- CHM
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Sujet
- Rab escort protein 1 (REP1) also known as Rab proteins geranylgeranyltransferase component A 1, and Choroideremia protein, is an enzyme that in humans is encoded by the CHM gene. It is mapped to Xq21.2. 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.
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UniProt
- P24386
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Pathways
- Sensory Perception of Sound
Antigène
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