Gene
sptlc2b
- ID
- ZDB-GENE-080305-8
- Name
- serine palmitoyltransferase, long chain base subunit 2b
- Symbol
- sptlc2b Nomenclature History
- Previous Names
-
- zgc:175221
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have serine C-palmitoyltransferase activity. Predicted to be involved in ceramide biosynthetic process and sphingosine biosynthetic process. Predicted to localize to cytoplasm and serine C-palmitoyltransferase complex. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 1C. Orthologous to human SPTLC2 (serine palmitoyltransferase long chain base subunit 2).
- 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
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hereditary sensory and autonomic neuropathy type 1C | Alliance | Neuropathy, hereditary sensory and autonomic, type IC | 613640 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Binding_site | IPR001917 | Aminotransferase, class-II, pyridoxal-phosphate binding site |
Domain | IPR004839 | Aminotransferase, class I/classII, large domain |
Family | IPR050087 | 8-amino-7-oxononanoate synthase class-II |
Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
Domain Details Per Protein
Protein | Length | 8-amino-7-oxononanoate synthase class-II | Aminotransferase, class I/classII, large domain | Aminotransferase, class-II, pyridoxal-phosphate binding site | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain |
---|---|---|---|---|---|---|---|
UniProtKB:B0JZN8
|
558 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available