Kaptin (actin binding protein)

Last updated
KPTN
Identifiers
Aliases KPTN , 2E4, MRT41, kaptin (actin binding protein), kaptin, actin binding protein, KICS4
External IDs OMIM: 615620; MGI: 1890380; HomoloGene: 5127; GeneCards: KPTN; OMA:KPTN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001291296
NM_007059

NM_133727

RefSeq (protein)

NP_001278225
NP_008990

NP_598488

Location (UCSC) Chr 19: 47.48 – 47.48 Mb Chr 7: 15.85 – 15.86 Mb
PubMed search [3] [4]
Wikidata
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Kaptin is a protein that in humans is encoded by the KPTN gene. [5] [6]

Contents

Clinical

Mutations in this gene have been associated with a syndrome of acrocephaly, muscular hypotonia, global development delay, dyspraxia and hand-mouth synkinesia. [7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000118162 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006021 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Bearer EL, Abraham MT (February 1999). "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear". European Journal of Cell Biology. 78 (2): 117–26. doi:10.1016/s0171-9335(99)80013-2. PMC   3376092 . PMID   10099934.
  6. "Entrez Gene: KPTN kaptin (actin binding protein)".
  7. Lucena PH, Armani-Franceschi G, Bispo-Torres AC, Bandeira ID, Lucena MF, Maldonado I, et al. (2020). "KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report". Am J Med Genet A. 182 (4): 762–767. doi:10.1002/ajmg.a.61492. PMID   31999056. S2CID   210945773.

Further reading