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Kaptin (KPTN)

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Actin-associated protein 2E4

Kaptin (KPTN)
CCC H752
HGNC 6404
MGI 1890380
PubMed 10099934
RGD 1310341
UniProt Q9Y664
Wiki KPTN
KPTNappears to be involved in this structural network. KPTN extends beyond the barbed ends of actin filaments at the tips of stereocilia, and using cloned human cDNA, KPTN mapped to chromosome 19q13.4. A combination of FISH, radiation hybrid mapping and YAC screening localized KPTN between markers D19S412 and NIB1805, making this gene an excellent functional and positional candidate for DFNA4, a form of autosomal dominant non-syndromic hearing loss. Although no deafness-causing mutations were identified in the coding region, KPTN remains an excellent candidate gene for hearing loss; by synteny, its murine orthologue also remains a candidate gene for the Nijmegan waltzer (nv) mouse mutant, which has vestibular defects and a variable sensorineural hearing loss.

Organism species: Homo sapiens (Human)

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

Organism species: Mus musculus (Mouse)

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

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Kaptin (KPTN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Kaptin (KPTN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Kaptin (KPTN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Kaptin (KPTN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Kaptin (KPTN) ELISA Kit Customized Service Offer
  1. "An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells."J. Neurosci. 12:750-761(1992) [PubMed] [Europe PMC] [Abstract]
  2. "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear."Eur. J. Cell Biol. 78:117-126(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and biology of human chromosome 19." Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4."Ann. Hum. Genet. 64:189-196(2000) [PubMed] [Europe PMC] [Abstract]
  7. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures."Am. J. Hum. Genet. 94:87-94(2014) [PubMed] [Europe PMC] [Abstract]