Entity Details

Primary name CCHL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP53701
EntryNameCCHL_HUMAN
FullNameHolocytochrome c-type synthase
TaxID9606
Evidenceevidence at protein level
Length268
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesHCCS

GO terms

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GOName
GO:0004408 holocytochrome-c synthase activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0009887 animal organ morphogenesis
GO:0016020 membrane
GO:0018063 cytochrome c-heme linkage
GO:0020037 heme binding
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Membrane
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR000511 Holocytochrome c/c1 synthaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
309801 OMIMLinear skin defects with multiple congenital anomalies 1 (LSDMCA1)A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are 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. Microphthalmia is a 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. The disease is caused by variants affecting the gene represented in this entry.