Wikiwand AI

Kaptin (actin binding protein)

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Kaptin is a protein that in humans is encoded by the KPTN gene.[5][6]

AliasesKPTN, 2E4, MRT41, kaptin (actin binding protein), kaptin, actin binding protein, KICS4
External IDsOMIM: 615620; MGI: 1890380; GeneCards: KPTN
End47,484,265 bp[1]
Quick facts KPTN, Identifiers ...
KPTN
Identifiers
AliasesKPTN, 2E4, MRT41, kaptin (actin binding protein), kaptin, actin binding protein, KICS4
External IDsOMIM: 615620; MGI: 1890380; GeneCards: KPTN
Orthologs
DatabasesNCBI: entry; OMA: entry
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 MbChr 7: 15.85 – 15.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

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

Further reading

Related Articles

Timelines

Top Qs

Fact Checks