STARD6: Steroidogenic Acute Regulatory Protein-Related Lipid Transfer Domain 6
A member of the START domain family involved in lipid transport and steroidogenesis
Gene Information Card
| Symbol | STARD6 |
|---|---|
| Full Name | StAR-related lipid transfer domain containing 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 79632 ncbi.nlm.nih.gov/gene/79632 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q9BXT6 |
| OMIM ID | 617644 |
| HGNC ID | 22997 |
| Aliases | START6, DKFZp434B1231 |
Description
STARD6 encodes a member of the START (StAR-related lipid transfer) domain family. The protein is involved in intracellular lipid transport, particularly cholesterol, and may play a role in steroidogenesis. It is expressed in multiple tissues including testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Ovary | 5.4 | Low |
| Liver | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.3 | Low expression |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • lipid binding (GO:0008289) | • phospholipid transport (GO:0015914) |
| • lipid transport (GO:0006869) | • cytoplasm (GO:0005737) |
Pathways
• Lipid transport (Reactome: R-HSA-1483206)
Protein Summary
STARD6 is a 213-amino acid protein containing a START domain that binds and transports lipids, including cholesterol. It is localized to the cytoplasm and may facilitate lipid transfer between membranes. Its expression in steroidogenic tissues suggests a role in hormone synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STARD6 Knockout HEK293 Cell Line | EDJ-KQ9874 | Human | 147323 | Details Get a Quote |
| STARD6 Knockout HeLa Cell Line | EDJ-KQ58570 | Human | 147323 | Details Get a Quote |
| STARD6 Knockout A-549 Cell Line | EDJ-KQ67060 | Human | 147323 | Details Get a Quote |
| STARD6 Knockout HCT 116 Cell Line | EDJ-KQ75460 | Human | 147323 | Details Get a Quote |
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