COA7 gene

cytochrome c oxidase assembly factor 7 (putative)

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

From UniProt:

Required for assembly of mitochondrial respiratory chain complex I and complex IV.

Covered on Genetics Home Reference:

From NCBI Gene:

  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3

From UniProt:

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. [MIM:618387]

Cytogenetic Location: 1p32.3, which is the short (p) arm of chromosome 1 at position 32.3

Molecular Location: base pairs 52,684,449 to 52,698,347 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 1p32.3, which is the short (p) arm of chromosome 1 at position 32.3
  • C1orf163
  • RESA1
  • SCAN3
  • SELRC1