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- Table of Contents
Facts about Iporin.
Human | |
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Gene Name: | RUSC2 |
Uniprot: | Q8N2Y8 |
Entrez: | 9853 |
Belongs to: |
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No superfamily |
interacting protein of Rab1; iporin; KIAA0375; RUN and SH3 domain containing 2; RUN and SH3 domain-containing protein 2
Mass (kDA):
161.225 kDA
Human | |
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Location: | 9p13.3 |
Sequence: | 9; NC_000009.12 (35490111..35561898) |
Widely expressed, with highest levels in brain and testis.
Cytoplasm, cytosol. Cytosolic punctate distribution. Also observed in the perinuclear region.
PMID: 15796781 by Bayer M., et al. Identification and characterization of Iporin as a novel interaction partner for rab1.
PMID: 27612186 by Alwadei A.H., et al. Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.