Exocyst Complex Component 8

Alternative Names

  • EXOC8
  • Exocyst Complex, 84-kD Subunit
  • EXO84
  • SEC84, S. Cerevisiae, Homolog of
  • SEC84
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OMIM Number

615283

NCBI Gene ID

149371

Uniprot ID

Q8IYI6

Length

5,100 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Exocyst complex component 8

Molecular Mass

81799 Da

Amino Acid Count

725

Genomic Location

chr1:231,332,752-231,337,851

Gene Map Locus
1q42.2

Description

This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_175876.4:c.1819_1820delPalestineNC_000001.11:g.231335926_231335927delPathogenicNeurodevelopmental Disorder with Microcephaly, Seizures, and Brain AtrophyNG_051632.1:g.6946_6947del; NM_175876.4:c.1819_1820del; NP_787072.2:p.Asp607Ter
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