ARFGEF1 Summary

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]

ARFGEF1 Details

Gene Symbol : ARFGEF1

Gene Name : ADP ribosylation factor guanine nucleotide exchange factor 1

Chromosome : CHR 8: 673,439,26-671,742,97

Locus : 8q13.2

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CPA6 Summary

The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]

CPA6 Details

Gene Symbol : CPA6

Gene Name : Carboxypeptidase A6

Chromosome : CHR 8: 677,471,13-674,221,69

Locus : 8q13.2

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