Trafficking Protein Particle Complex, Subunit 11

Alternative Names

  • TRAPPC11
  • Chromosome 4 Open Reading frame 41
  • C4ORF41
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OMIM Number

614138

NCBI Gene ID

60684

Uniprot ID

Q7Z392

Length

54,328 bases

No. of Exons

32

No. of isoforms

4

Protein Name

Trafficking protein particle complex subunit 11

Molecular Mass

128881 Da

Amino Acid Count

1133

Genomic Location

chr4:183,659,267-183,713,594

Gene Map Locus
4q35.1

Description

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021942.6:c.2938G>AUnited Arab EmiratesNC_000004.12:g.183701783G>ALikely Pathogenic, PathogenicPathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 18NG_033102.1:g.47517G>A; NM_021942.6:c.2938G>A; NP_068761.4:p.Gly980Arg39750941760510
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