PRRT2

Name

proline rich transmembrane protein 2

Type

protein-coding

Aliases

BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].

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Gene · Ensembl

proline rich transmembrane protein 2

Symbol

PRRT2

Biotype

Protein coding

Organism

Homo sapiens

Location

16:29,811,382-29,815,892

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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