BC001691
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
30,602 Da
NCBI Official Full Name
Homo sapiens holocytochrome c synthase (cytochrome c heme-lyase), mRNA
NCBI Official Synonym Full Names
holocytochrome c synthase
NCBI Protein Information
cytochrome c-type heme lyase
UniProt Protein Name
Cytochrome c-type heme lyase
UniProt Synonym Protein Names
Holocytochrome c-type synthase
UniProt Synonym Gene Names
UniProt Entry Name
CCHL_HUMAN
NCBI Summary for HCCS
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
UniProt Comments for HCCS
HCCS: Links covalently the heme group to the apoprotein of cytochrome c. Defects in HCCS are a cause of microphthalmia syndromic type 7 (MCOPS7); also known as microphthalmia with linear skin defects (MLS) or MIDAS syndrome. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye TO complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS7 is a disorder characterized by unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, mental retardation, and diaphragmatic hernia. Belongs to the cytochrome c-type heme lyase family.
Protein type: EC 4.4.1.17; Lyase; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Mitochondrial
Chromosomal Location of Human Ortholog: Xp22.3
Cellular Component: mitochondrion
Biological Process: organ morphogenesis
Disease: Microphthalmia, Syndromic 7
Research Articles on HCCS
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Pathways associated with HCCS cdna clone
Diseases associated with HCCS cdna clone
Organs/Tissues associated with HCCS cdna clone
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