Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: YVECPIRGTA AENKENLDPS NLMPPPNQTP APDQPFALST VREESSIPRA DSEKKWVYPS EQMFWNAMLK KGWKWKDEDI SQKDMYNIIR IHNQNNEQAW KEILKWEALH AAECPCGPSL IRFGGKAKEY SPRARIRSWM GYEL
Highest antigen sequence identity to the following orthologs: Mouse - 90%, Rat - 92%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 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
Gene Aliases: CCHL; HCCS; LSDMCA1; MCOPS7; MLS; RGD1563855
UniProt ID: (Human) P53701, (Mouse) P53702
Entrez Gene ID: (Human) 3052, (Mouse) 15159, (Rat) 317444
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