EXOC6B gene

exocyst complex component 6B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]

From UniProt:

Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

From NCBI Gene:

  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3

From UniProt:

Spondyloepimetaphyseal dysplasia with joint laxity, 3 (SEMDJL3): An autosomal recessive bone disease characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones. [MIM:618395]

Cytogenetic Location: 2p13.2, which is the short (p) arm of chromosome 2 at position 13.2

Molecular Location: base pairs 72,175,984 to 72,826,033 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2p13.2, which is the short (p) arm of chromosome 2 at position 13.2
  • SEC15B
  • SEC15L2
  • SEMDJL3