Human Gene HCCS (uc004cuj.3) Description and Page Index
Description: Homo sapiens holocytochrome c synthase (HCCS), transcript variant 2, mRNA. RefSeq Summary (NM_001122608): 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]. Transcript (Including UTRs) Position: hg19 chrX:11,129,406-11,141,204 Size: 11,799 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chrX:11,130,181-11,139,930 Size: 9,750 Coding Exon Count: 6
ID:CCHL_HUMAN DESCRIPTION: RecName: Full=Cytochrome c-type heme lyase; Short=CCHL; EC=18.104.22.168; AltName: Full=Holocytochrome c-type synthase; FUNCTION: Links covalently the heme group to the apoprotein of cytochrome c (By similarity). CATALYTIC ACTIVITY: Holocytochrome c = apocytochrome c + heme. SUBCELLULAR LOCATION: Mitochondrion inner membrane (Potential). DISEASE: Defects in HCCS are a cause of microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]; 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. SIMILARITY: Belongs to the cytochrome c-type heme lyase family. SIMILARITY: Contains 2 HRM (heme regulatory motif) repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HCCS";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HCCS CDC HuGE Published Literature: HCCS Positive Disease Associations: Cognitive performance Related Studies:
Cognitive performance Need ,et al. 2009, A Genome-wide Study of Common SNPs and CNVs in Cognitive Performance in the CANTAB battery, Human molecular genetics 2009 18- 23 : 4650-61.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P53701
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.