AGBL5 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: ATP/GTP binding protein-like 5
  • Removal of glutamate residues from tubulin and other protein substrates
  • Tubulin in a central component of microtubules in the photoreceptor connecting cilium
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal recessive
  • Vessel attenuation
  • Mid-peripheral bone spicule pigmentation of variable density with progressive RPE atrophy
  • Macular RPE mottling or atrophy
  • Optic disc pallor
  • Cystoid macular oedema may be present
  • Early onset posterior subcapsular cataract
Visual function
  • Onset of nyctalopia and/or peripheral VF loss usually in the 1st to 2nd decade of life
  • Progressive VA and VF loss
Systemic features
  • Some reported patients have learning difficulties
  • No other extraocular features suggestive of syndromic RP
Key investigations
  • Full field ERG: Rod-cone dystrophy or generally reduced rod and cone responses
  • FAF: Parafoveal ring of increased/decreased AF with mid-peripheral hypo-AF (correlates with RPE atrophy)
  • OCT: Progressive outer retinal loss with inner nuclear layer cysts
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (retinal)
  • Whole exome sequencing
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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  1.  Rogowski, K., Van Dijk, J., Magiera, M.M., Bosc, C., Deloulme, J.-C., Bosson, A., Peris, L., Gold, N.D., Lacroix, B., Grau, M.B., Bec, N., Larroque, C., Desagher, S., Holzer, M., Andrieux, A., Moutin, M.-J. & Janke, C. (2010) A Family of Protein-Deglutamylating Enzymes Associated with Neurodegeneration. Cell, 143 (4), p.564–578
  2.  Astuti, G.D.N., Arno, G., Hull, S., Pierrache, L., Venselaar, H., Carss, K., Raymond, F.L., Collin, R.W.J., Faradz, S.M.H., Van Den Born, L.I., Webster, A.R. & Cremers, F.P.M. (2016) Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. Investigative Opthalmology & Visual Science, 57 (14), p.6180
  3.  Kastner, S., Thiemann, I.-J., Dekomien, G., Petrasch-Parwez, E., Schreiber, S., Akkad, D.A., Gerding, W.M., Hoffjan, S., Günes, S., Günes, S., Bagci, H. & Epplen, J.T. (2015) Exome Sequencing RevealsAGBL5as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. Investigative Opthalmology & Visual Science, 56 (13), p.8045
  4.  Branham K, Matsui H, Biswas P, et al. Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiol Genomics. 2016;48(12):922-927

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Updated on November 30, 2020
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