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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; Positive Samples: SKOV3, MCF-7, HeLa, HepG2, SW480, Mouse small intestine, Mouse kidney; Cellular Location: Lipid-anchor, Membrane, Mitochondrion inner membrane
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: CCHL; cytochrome c heme-lyase; Cytochrome c-type heme lyase; holocytochrome c synthase; holocytochrome c synthetase; Holocytochrome c-type synthase; microphthalamia with linear skin defects
基因别名: CCHL; HCCS; LSDMCA1; MCOPS7; MLS; RGD1563855
UniProt ID: (Human) P53701, (Mouse) P53702
Entrez Gene ID: (Human) 3052, (Mouse) 15159, (Rat) 317444
分子生物学功能:
lyase
metabolite interconversion enzyme