Aliases for STARD3NL Gene
External Ids for STARD3NL Gene
Previous GeneCards Identifiers for STARD3NL Gene
This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]
GeneCards Summary for STARD3NL Gene
STARD3NL (STARD3 N-Terminal Like) is a Protein Coding gene. Diseases associated with STARD3NL include Weaver Syndrome. Among its related pathways are Metabolism and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). An important paralog of this gene is STARD3.
UniProtKB/Swiss-Prot Summary for STARD3NL Gene
Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263).