Gene
ldlrap1a
- ID
- ZDB-GENE-030328-13
- Name
- low density lipoprotein receptor adaptor protein 1a
- Symbol
- ldlrap1a Nomenclature History
- Previous Names
-
- sb:cb50
- zgc:56121
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to localize to early endosome. Is expressed in several structures, including apical ectodermal ridge pectoral fin bud; axis; cardiovascular system; nervous system; and pectoral fin. Human ortholog(s) of this gene implicated in autosomal recessive hypercholesterolemia. Orthologous to human LDLRAP1 (low density lipoprotein receptor adaptor protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb50 (25 images)
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 |
|---|---|---|---|
| autosomal recessive hypercholesterolemia | Alliance | Hypercholesterolemia, familial, 4 | 603813 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | PH-like domain superfamily | PTB/PI domain |
|---|---|---|---|
|
UniProtKB:Q1L868
|
287 | ||
|
UniProtKB:Q7ZVB8
|
287 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
ldlrap1a-201
(1)
|
1490 nt |
Interactions and Pathways
No data available
Plasmids
No data available