HCCS holocytochrome c synthase
Gene ID: 3052, updated on 2-Nov-2024Gene type: protein coding
Also known as: MLS; CCHL; MCOPS7; LSDMCA1
- See all available tests in GTR for this gene
- Go to complete Gene record for HCCS
- Go to Variation Viewer for HCCS variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. GeneReviews: Not available | |
| Linear skin defects with multiple congenital anomalies 1 | See labs |
Genomic context
- Location:
- Xp22.2
- Sequence:
- Chromosome: X; NC_000023.11 (11111332..11123086)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HCCS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HCCS @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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