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HCCS |
Gene Facts External Data Attribution
- HGNC Symbol
- HCCS (HGNC:4837) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- holocytochrome c synthase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MLS
- Alias symbols
- CCHL
- %HI
- 40.92(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.89(Read more about gnomAD pLI score)
- LOEUF
- 0.41(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:11129452-11141206 NCBI Ensembl UCSC GRCh38/hg38: chrX:11111332-11123086 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005333.5 ENST00000380762.5 (Read more about MANE Select)
- Function
- Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome. {ECO:0000269|PubMed:23150584}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20454
ClinGen Curation ID:
CCID:007273
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)
