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KIF12

From Wikipedia, the free encyclopedia

KIF12
Identifiers
AliasesKIF12, kinesin family member 12
External IDsOMIM: 611278 MGI: 1098232 HomoloGene: 7796 GeneCards: KIF12
Orthologs
SpeciesHumanMouse
Entrez

113220

16552

Ensembl

ENSG00000136883

ENSMUSG00000028357

UniProt

Q96FN5

Q9D2Z8

RefSeq (mRNA)

NM_138424

NM_010616
NM_001317352

RefSeq (protein)

NP_612433

NP_001304281
NP_034746

Location (UCSC)Chr 9: 114.09 – 114.1 MbChr 4: 63.08 – 63.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kinesin family member 12 (KIF12), also known as kinesin-12, is a human protein encoded by the gene KIF12. It is part of the kinesin family of motor proteins.

Clinical significance

Mutations in KIF12 are associated with cholestatic liver disease.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136883 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028357 - 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. ^ Stalke, Amelie; Sgodda, Malte; Cantz, Tobias; Skawran, Britta; Lainka, Elke; Hartleben, Björn; Baumann, Ulrich; Pfister, Eva-Doreen (January 2022). "KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease". The Journal of Pediatrics. 240: 284–291.e9. doi:10.1016/j.jpeds.2021.09.019. PMID 34555379. S2CID 237615302.


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This page was last edited on 3 December 2023, at 00:47
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