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- Table of Contents
Facts about Transmembrane protein 240.
Human | |
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Gene Name: | TMEM240 |
Uniprot: | Q5SV17 |
Entrez: | 339453 |
Belongs to: |
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TMEM240 family |
C1orf70; Chromosome 1 Open Reading Frame 70; SCA21; Spinocerebellar Ataxia 21; Transmembrane Protein 240; Transmembrane Protein C1orf70
Mass (kDA):
19.908 kDA
Human | |
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Location: | 1p36.33 |
Sequence: | 1; NC_000001.11 (1534778..1540624, complement) |
Cell junction, synapse. Cell membrane; Multi-pass membrane protein.
PMID: 25070513 by Delplanque J., et al. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
PMID: 29053796 by Nibbeling E.A.R., et al. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.