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Highest antigen sequence indentity to the following orthologs: Mouse (90%), Rat (90%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-51783. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
CCHL (cytochrome c-type heme lyase), also known as HCCS (holocytochrome c-type synthase), is a 268 amino acid mitochondrial inner membrane protein that belongs to the cytochrome c-type heme lyase family. Containing two HRM (heme regulatory motif) repeats, HCCS participates in the covalent linkage of a heme group to an apoprotein of cytochrome c. The gene encoding HCCS maps to the human X chromosome. Defects to this gene cause microphthalmia syndromic type 7 (MCOPS7), also known as MIDAS syndrome or microphthalmia with linear skin defects (MLS). MCOPS7 is an X-linked male-lethal disorder that results in eye deformation, unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males.
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蛋白别名: cytochrome c heme-lyase; Cytochrome c-type heme lyase; Holocytochrome c-type synthase; microphthalamia with linear skin defects
基因别名: CCHL; HCCS; LSDMCA1; MCOPS7; MLS
UniProt ID: (Human) P53701
Entrez Gene ID: (Human) 3052