ACO2 gene

aconitase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]

From UniProt:

Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.

From NCBI Gene:

  • Infantile cerebellar-retinal degeneration
  • Optic atrophy 9

From UniProt:

Optic atrophy 9 (OPA9): A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. [MIM:616289]

Infantile cerebellar-retinal degeneration (ICRD): A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. [MIM:614559]

Cytogenetic Location: 22q13.2, which is the long (q) arm of chromosome 22 at position 13.2

Molecular Location: base pairs 41,469,125 to 41,528,989 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.2, which is the long (q) arm of chromosome 22 at position 13.2
  • ACONM
  • HEL-S-284
  • ICRD
  • OCA8
  • OPA9