Aliases for EXOC6 Gene
External Ids for EXOC6 Gene
Previous HGNC Symbols for EXOC6 Gene
Previous GeneCards Identifiers for EXOC6 Gene
The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]
GeneCards Summary for EXOC6 Gene
EXOC6 (Exocyst Complex Component 6) is a Protein Coding gene. Diseases associated with EXOC6 include Bardet-Biedl Syndrome 18. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Organelle biogenesis and maintenance. An important paralog of this gene is EXOC6B.
UniProtKB/Swiss-Prot for EXOC6 Gene
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity).