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OPA6 optic atrophy 6 (autosomal recessive) [ Homo sapiens (human) ]

Gene ID: 777778, updated on 7-Dec-2024

Summary

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Gene symbol
OPA6
Gene description
optic atrophy 6 (autosomal recessive)
See related
MIM:258500
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ROA1

Genomic context

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Location:
8q21.13-q22.1

Bibliography

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Related articles in PubMed

  1. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Barbet F, et al. Eur J Hum Genet, 2003 Dec. PMID 14508503
  2. USP7 is a novel Deubiquitinase sustaining PLK1 protein stability and regulating chromosome alignment in mitosis. Peng Y, et al. J Exp Clin Cancer Res, 2019 Nov 15. PMID 31730000, Free PMC Article
  3. WWP2-WWP1 ubiquitin ligase complex coordinated by PPM1G maintains the balance between cellular p73 and ΔNp73 levels. Chaudhary N, et al. Mol Cell Biol, 2014 Oct 1. PMID 25071155, Free PMC Article
  4. Heterozygous deletion of chromosome 17p renders prostate cancer vulnerable to inhibition of RNA polymerase II. Li Y, et al. Nat Commun, 2018 Oct 22. PMID 30349055, Free PMC Article
  5. Acetylation of ELF5 suppresses breast cancer progression by promoting its degradation and targeting CCND1. Li X, et al. NPJ Precis Oncol, 2021 Mar 19. PMID 33742100, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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optic atrophy 6 (autosomal recessive)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Other Names

  • recessive optic atrophy 1

Property

  • phenotype only

Gene LinkOut

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