Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MGLSPSAPA VAVQASNASA SPPSGCPMHE GKMKGCPVNT EPSGPTCEKK TYSVPAHQER AYEYVECPIR GTAAENKENL DPSNLMPPPN QTPAPDQPFA LSTVREESSI PRADSEKKWV YPSEQMFWNA MLKKGWKWKD EDISQKDMYN IIRIHNQNNE QAWKEILKWE ALHAAECPCG PSLIRFGGKA KEYSPRARIR SWMGYELPFD RHDWIINRCG TEVRYVIDYY DGGEVNKDYQ FTILDVRPAL DSLSAVWDRM KVAWWRWTS (1-268 aa encoded by BC001691 )
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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Protein Aliases: CCHL; cytochrome c heme-lyase; Cytochrome c-type heme lyase; Holocytochrome c-type synthase; microphthalamia with linear skin defects
Gene Aliases: CCHL; HCCS; LSDMCA1; MCOPS7; MLS
UniProt ID: (Human) P53701, (Mouse) P53702
Entrez Gene ID: (Human) 3052, (Mouse) 15159
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