TMEM240 gene

transmembrane protein 240

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

From NCBI Gene:

This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]

From NCBI Gene:

  • Spinocerebellar ataxia 21

From UniProt:

Spinocerebellar ataxia 21 (SCA21): A form of spinocerebellar ataxia, 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. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients. [MIM:607454]

Cytogenetic Location: 1p36.33, which is the short (p) arm of chromosome 1 at position 36.33

Molecular Location: base pairs 1,534,778 to 1,540,360 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.33, which is the short (p) arm of chromosome 1 at position 36.33
  • C1orf70
  • SCA21