AFG3L2 gene

AFG3 like matrix AAA peptidase subunit 2

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

From NCBI Gene:

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

From UniProt:

ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Spastic ataxia 5, autosomal recessive
  • Spinocerebellar ataxia 28

From UniProt:

Spinocerebellar ataxia 28 (SCA28): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment. [MIM:610246]

Spastic ataxia 5, autosomal recessive (SPAX5): A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. [MIM:614487]

Cytogenetic Location: 18p11.21, which is the short (p) arm of chromosome 18 at position 11.21

Molecular Location: base pairs 12,328,944 to 12,377,309 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18p11.21, which is the short (p) arm of chromosome 18 at position 11.21
  • SCA28
  • SPAX5