LDLRAD3
Low Density Lipoprotein Receptor Class A Domain Containing 3
Gene Information Card
| Symbol | LDLRAD3 |
|---|---|
| Full Name | Low Density Lipoprotein Receptor Class A Domain Containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 143458 ncbi.nlm.nih.gov/gene/143458 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q5T7N2 |
| OMIM ID | 616159 |
| HGNC ID | 26261 |
| Aliases | LRAD3, MGC138499 |
Description
LDLRAD3 encodes a member of the low-density lipoprotein receptor (LDLR) family, characterized by class A (LDLR class A) repeats. The protein is involved in receptor-mediated endocytosis and may play a role in lipid metabolism and cellular signaling. Expression is enriched in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| LDLRAD3-related disorder | Loss-of-function mutations may impair receptor function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 3.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuroblastoma cell line |
| HEK293 | 2.3 | Embryonic kidney cells |
| HepG2 | 1.0 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | 0.01% | Unknown |
| c.452G>A (p.Arg151Gln) | Missense | 0.005% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • low-density lipoprotein particle receptor activity (GO:0005041) | • receptor-mediated endocytosis (GO:0006898) |
| • integral component of membrane (GO:0016021) |
Pathways
• Lipoprotein metabolism (Reactome: R-HSA-174824)
Protein Summary
LDLRAD3 is a transmembrane protein containing LDLR class A repeats, involved in endocytosis and potentially lipid transport. It is predominantly expressed in neural tissues and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDLRAD3 Knockout HEK293T Cell Line | EDJ-KQ158 | Human | 143458 | Details Get a Quote |
| LDLRAD3 Knockout HEK293 Cell Line | EDJ-KQ14051 | Human | 143458 | Details Get a Quote |
| LDLRAD3 Knockout A-549 Cell Line | EDJ-KQ43959 | Human | 143458 | Details Get a Quote |
| LDLRAD3 Knockout HCT 116 Cell Line | EDJ-KQ43960 | Human | 143458 | Details Get a Quote |
| LDLRAD3 Knockout HeLa Cell Line | EDJ-KQ43961 | Human | 143458 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
