Product Datasheet
CHCHD5 Antibody
Catalog Number: 46486
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:Q9BSY4
NCBI Gene ID:84269
NCBI Protein:BC004498
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Full length fusion protein of human CHCHD5
- appl_detail:
Immunohistochemistry: 1: 20-100
- other_names:
- MIC14; C2orf9
- Purification:
- Antigen affinity purification
- Specificity:
- The antibody detects endogenous levels of total CHCHD5 protein.
- Background:
- CHCHD5 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 5) is a 110 amino acid protein that contains one CHCH domain. The gene encoding CHCHD5 maps to human chromosome 2, which consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr?m syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
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