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Study present a rare case of a 46,XY patient with CHD (show CHDH Proteins) associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 (show FGFR1 Proteins) and STARD3 genes that may be associated with the phenotype.
Structure of the lutein-binding domain of human StARD3 at 1.74 A resolution and model of a complex with lutein has been presented.
Thus, STARD3 is a cholesterol transporter scaffolding endoplasmic reticulum-endosome contacts and modulating cellular cholesterol repartition by delivering cholesterol to endosomes.
STARD3 or STARD3NL-mediated ER-endosome contacts, which affect endosome dynamics, are believed to be involved in cholesterol transport
Elevated StARD3 expression may contribute to breast cancer aggressiveness by increasing membrane cholesterol and enhancing oncogenic signaling.
Data indicate that mitochondrial proteolytic activation of START domain-containing protein 3 (STARD3) enhances steroidogenesis.
Findings show that PPP1R1B (show PPP1R1B Proteins)-STARD3 fusion transcript has a key role in subsets of gastric cancers through the activation of PI3K (show PIK3CA Proteins)/AKT (show AKT1 Proteins) signaling.
STARD3 or STARD3NL and VAP (show F10 Proteins) form a novel molecular tether between late endosomes and the endoplasmic reticulum.
Haplotype analysis indicated that combined effect of STARD3 variants (rs9972882, rs881844, rs11869286 and rs1877031) might affect the risk of GC.
With saturating MLN64, steroidogenesis by placental mitochondria proceeds at near-maximal rate.
The role of endosomal cholesterol trafficking protein, StAR-related lipid transfer domain 3 (StarD3/MLN64), in BRIN-BD11 (show DEFB110 Proteins) insulinoma (show RPS15 Proteins) cells.
a transport pathway for endosomal cholesterol to mitochondria that requires MLN64, but not NPC1 (show NPC1 Proteins)
mice homozygous for the Mln64 mutant were viable, neurologically intact,and fertile. No significant changes in plasma lipids, liver lipids, or expression of genes involved in sterol metabolism were observed, except for an increase in sterol ester storage
Hepatic MLN64 over-expression induced damage and apoptosis in murine livers and altered cholesterol metabolism.
This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.
StAR-related lipid transfer (START) domain containing 3
, stAR-related lipid transfer protein 3
, START domain containing 3
, MLN 64
, START domain-containing protein 3
, metastatic lymph node gene 64 protein
, metastatic lymph node protein 64
, steroidogenic acute regulatory protein related
, protein ES 64
, protein MLN 64
, mln64-like protein