Exocyst Complex Component 7

Alternative Names

  • EXOC7
  • EXO70, S. Cerevisiae, Homolog of
  • EXO70
  • KIAA1067
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OMIM Number

608163

NCBI Gene ID

23265

Uniprot ID

Q9UPT5

Length

22,772 bases

No. of Exons

22

No. of isoforms

6

Protein Name

Exocyst complex component 7

Molecular Mass

83382 Da

Amino Acid Count

735

Genomic Location

chr17:76,081,015-76,103,786

Gene Map Locus
17q25.1

Description

The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001013839.4:c.809-2A>GUnited Arab EmiratesNC_000017.11:g.76091237T>CPathogenicPathogenicNeurodevelopmental Disorder with Seizures and Brain AtrophyNG_030672.1:g.17551A>G; NM_001013839.4:c.809-2A>G; NP_001013861.1:p.?1310629937983545
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