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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Product may be used with Western Blot (Transfected lysate).
The Isotype of this product is composed of an IgG Mixture.
Immunogen sequence: MGLSPSAPAV AVQASNASAS PPSGCPMHEG KMKGCPVNTE PSGPTCEKKT YSVPAHQERA YEYVECPIRG TAAENKENLD PSNLMPPPNQ TPAPDQPFAL STVREESSIP RADSEKKWVY PSEQMFWNAM LKKGWKWKDE DISQKDMYNI IRIHNQNNEQ AWKEILKWEA LHAAECPCGP SLIRFGGKAK EYSPRARIRS WMGYELPFDR HDWIINRCGT EVRYVIDYYD GGEVNKDYQF TILDVRPALD SLSAVWDRMK VAWWRWTS
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: cytochrome c heme-lyase; cytochrome c-type heme lyase; holocytochrome-c synthetase; microphthalamia with linear skin defects; microphthalmia with linear skin defects; unnamed protein product
基因别名: CCHL; LSDMCA1; MCOPS7; MLS
UniProt ID: (Human) P53701
Entrez Gene ID: (Human) 3052