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Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
STARD6 (StAR Related Lipid Transfer Domain Containing 6) is a Protein Coding gene. Among its related pathways are Metabolism of steroid hormones and Metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is STARD5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008289 | lipid binding | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Metabolism of steroid hormones |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006869 | lipid transport | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STARD6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | STARD6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STARD6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Stard6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Stard6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | STARD6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | STARD6 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | STARD6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496774 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2917782 | - | p.Glu159Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2670481 | CNV | deletion | 23128226 |
esv2717126 | CNV | deletion | 23290073 |
esv2717127 | CNV | deletion | 23290073 |
esv3555418 | CNV | deletion | 23714750 |
esv3642579 | CNV | loss | 21293372 |
nsv962973 | CNV | deletion | 23825009 |
No disorders were found for STARD6 Gene.