Gene
hccsa.2
- ID
- ZDB-GENE-090501-4
- Name
- holocytochrome c synthase a, tandem duplicate 2
- Symbol
- hccsa.2 Nomenclature History
- Previous Names
-
- hccsal
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable holocytochrome-c synthase activity. Predicted to act upstream of or within protein phosphorylation. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in linear skin defects with multiple congenital anomalies 1 and microphthalmia. Orthologous to human HCCS (holocytochrome c synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa31265 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 1 of 1
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| linear skin defects with multiple congenital anomalies 1 | Alliance | Linear skin defects with multiple congenital anomalies 1 | 309801 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR000511 | Holocytochrome c/c1 synthase |
1 - 1 of 1
Domain Details Per Protein
| Protein | Additional Resources | Length | Holocytochrome c/c1 synthase |
|---|---|---|---|
| UniProtKB:A0A8M6YUX6 | InterPro | 293 |
1 - 1 of 1
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hccsa.2-201
(1)
|
Ensembl | 435 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-10F21 |
1 - 1 of 1
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_017352633 (1) | 631 nt | ||
| Genomic | GenBank:CR788249 (1) | 202982 nt | ||
| Polypeptide | UniProtKB:A0A8M6YUX6 (1) | 293 aa |
No data available