VPS13C gene

vacuolar protein sorting 13 homolog C

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

From NCBI Gene:

This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

From UniProt:

Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. Involved in the regulation of PINK1/PARK2-mediated mitophagy in response to mitochondrial depolarization.

From NCBI Gene:

  • Parkinson disease 23, autosomal recessive early-onset

From UniProt:

Parkinson disease 23, autosomal recessive, early onset (PARK23): An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. [MIM:616840]

Cytogenetic Location: 15q22.2, which is the long (q) arm of chromosome 15 at position 22.2

Molecular Location: base pairs 61,852,389 to 62,060,465 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q22.2, which is the long (q) arm of chromosome 15 at position 22.2
  • PARK23