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Proline Rich Transmembrane Protein 2 (PRRT2)

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IFITMD1; DSPB3; Interferon Induced Transmembrane Protein Domain Containing 1; Dispanin subfamily B member 3

Proline Rich Transmembrane Protein 2 (PRRT2)
CCC S163
HGNC 30500
MGI 1916267
PubMed 22101681
UniProt Q7Z6L0
Wiki PRRT2
PRRT2, Belongs to the CD225 family. A transmembrane protein is a protein that spans the entire biological membrane. Transmembrane proteins aggregate and precipitate in water. They require detergents or nonpolar solvents for extraction, although some of them (beta-barrels) can be also extracted using denaturing agents.
Proline-rich proteins (PRPs) is a class of intrinsically unstructured proteins (IUP) containing several repeats of a short proline-rich sequence.Many tannin-consuming animals secrete a tannin-binding protein (mucin) in their saliva. Tannin-binding capacity of salivary mucin is directly related to its proline content. Example of this class of protein is IB5, a human parotid salivary protein known to bind with polyphenols (binding responsible for the astringency mouth feel).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Proline Rich Transmembrane Protein 2 (PRRT2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Proline Rich Transmembrane Protein 2 (PRRT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Proline Rich Transmembrane Protein 2 (PRRT2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Proline Rich Transmembrane Protein 2 (PRRT2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Proline Rich Transmembrane Protein 2 (PRRT2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Proline Rich Transmembrane Protein 2 (PRRT2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Proline Rich Transmembrane Protein 2 (PRRT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Proline Rich Transmembrane Protein 2 (PRRT2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Proline Rich Transmembrane Protein 2 (PRRT2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Proline Rich Transmembrane Protein 2 (PRRT2) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia."Nat. Genet. 43:1252-1255(2011) [PubMed] [Europe PMC] [Abstract]
  6. "PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome." Am. J. Hum. Genet. 90:152-160(2012) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions." J. Hum. Genet. 57:338-341(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression."J. Med. Genet. 49:79-82(2012) [PubMed] [Europe PMC] [Abstract]
  9. "The dispanins: a novel gene family of ancient origin that contains 14 human members."PLoS ONE 7:E31961-E31961(2012) [PubMed] [Europe PMC] [Abstract]
  10. "Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias." Brain 134:3493-3501(2011) [PubMed] [Europe PMC] [Abstract]
  11. "PRRT2 Mutations are the major cause of benign familial infantile seizures." Hum. Mutat. 33:1439-1443(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis."J. Med. Genet. 49:76-78(2012) [PubMed] [Europe PMC] [Abstract]