Based on its chromosomal location and its role in the mitochondrial respiratory chain, HCCS was considered a candidate gene for Rett syndrome (RTT).
The genomic structure of the gene, which occupies an 11-kb region and consists of 7 exons, was determined.
No mutational abnormality of the gene was found in 20 RTT patients (Van den Veyver et al., 1998)
The human gene, symbolized HCCS, and the corresponding murine gene characterized by Schaefer et al.
(1996) share 83% nucleotide sequence identity and 85%aa identity.
The authors stated that, because of the lack of a neuromuscular phenotype in MLS, it is uncertain how the deletion of a mitochondrial holocytochrome synthetase would contribute to the phenotype seen in MLS.
Applications:Suitable for use in ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:50-400Immunocytochemistry: 1:50-500Immunohistochemistry (frozen): 1:50-500Immunohistochemistry (paraffin): 1:10-100ELISA: 1:100-1:5000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes human HCCS.
Isotype：IgG
Calc Applications Abbrev：E IC IHC WB
Calc Crossreactivity：Hu
Immunogen：Recombinant protein corresponding to Met1-Ser268 of human HCCS, fused to His-Tag and T7-tag at N-terminal expressed in E. coli.
