DKC1 anticorps (AA 81-190) (Biotin)
Aperçu rapide pour DKC1 anticorps (AA 81-190) (Biotin) (ABIN1700646)
Antigène
Voir toutes DKC1 AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
-
-
Épitope
- AA 81-190
-
Homologie
- Human,Mouse,Rat,Dog,Cow,Sheep,Pig,Horse,Chicken,Rabbit
-
Purification
- Purified by Protein A.
-
Immunogène
- KLH conjugated synthetic peptide derived from human Dyskerin
-
Isotype
- IgG
-
-
-
-
Indications d'application
-
WB 1:300-5000
IHC-P 1:200-400
IHC-F 1:100-500 -
Restrictions
- For Research Use only
-
-
-
Format
- Liquid
-
Concentration
- 1 μg/μL
-
Buffer
- Aqueous buffered solution containing 0.01M TBS ( pH 7.4) with 1 % BSA, 0.03 % Proclin300 and 50 % Glycerol.
-
Agent conservateur
- ProClin
-
Précaution d'utilisation
- This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.
-
Stock
- -20 °C
-
Stockage commentaire
- Store at -20°C for 12 months.
-
Date de péremption
- 12 months
-
-
- DKC1 (Dyskeratosis Congenita 1, Dyskerin (DKC1))
-
Autre désignation
- Dyskerin
-
Sujet
-
Synonyms: CBF5, CBF5 homolog, Cbf5p homolog, DKC 1, DKC, Dkc1, DKC1_HUMAN, DKCX, Dyskeratosis congenita 1, Dyskeratosis congenita 1 dyskerin, Dyskerin, H/ACA ribonucleoprotein complex subunit 4, NAP 57, NAP57, NAP-57, NOLA 4, NOLA4, Nopp140 associated protein of 57 kDa, Nopp140-associated protein of 57 kDa, Nucleolar protein family A member 4, Nucleolar protein NAP57, snoRNP protein DKC1, XAP 101, XAP101.
Background: Dyskerin (NAP57) associates with the chaperone protein Nopp140 and forms a small ribonucleoprotein particle with GAR1 (NOLA1), NHP2 (NOLA2) and Nop10 for the isomerization of uridine to pseudouridine (1). GAR1, NHP2 and dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies (2). The dyskerin gene maps to chromosome Xq28 (3). Missense mutations in the dyskerin gene interfere with normal nuclear localization of dyskerin and cause Dyskeratosis congenita (DKC) (4). DKC is a rare, X-linked bone marrow disorder characterized by cutaneous hyperpigmentation, dystrophy of the nails, atrophy of the testicles and leukoplakia of the oral mucosa. The GAR1 gene maps to chromosome 4q25 (5,6). The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein (2,7).
-
ID gène
- 1736
-
Pathways
- Telomere Maintenance
Antigène
-