TMEM230 gene

transmembrane protein 230

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

From NCBI Gene:

This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]

From UniProt:

Involved in trafficking and recycling of synaptic vesicles.

From UniProt:

Parkinson disease (PARK): A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease 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. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. [MIM:168600]

Cytogenetic Location: 20p13-p12.3, which is the short (p) arm of chromosome 20 between positions 13 and 12.3

Molecular Location: base pairs 5,068,483 to 5,113,087 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p13-p12.3, which is the short (p) arm of chromosome 20 between positions 13 and 12.3
  • C20orf30
  • dJ1116H23.2.1
  • HSPC274