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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
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    1. Vibhor 09 Jul 2026
      (A) With ARL2BP, photoreceptor OS develops normally, with correct DMT formation, axoneme extension, and disk alignment.

      Selection A- Gene with same function implicated in disease

      ExperimentName: Moye et al. 2018

      GOterm: GO:0051179 (localization)

      FunctionalEvidence: It was discovered that without ARL2BP, the photoreceptor OS does not develop normally or have correct DMT formation, axoneme extension, and disk alignment.

      HGNC: HGNC:10295 (RPGR), HGNC:10263 (RP1), HGNC:6816 (MAK)

      GeneEvidence: ARL2BP, RPGR, RP1 and MAK are all localized within the ciliary basal body and rootlet.

      SharedGeneImplication: RPGR was classified as having a "definitive" relationship with RP 15 by the Retina GCEP. Refer to the curation for further details. RP1 was classified as having a "definitive" relationship with RP1 by the Retina GCEP. Refer to the curation for further details. MAK was classified as having a "definitive" relationship with MAK-related retinopathy by the Retina GCEP. Refer to the curation for further details.

      Retine GCEP hgnc_imputed:HGNC_body
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    pmc.ncbi.nlm.nih.gov/articles/PMC6080659/