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KIF12
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| KIF12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KIF12, kinesin family member 12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611278; MGI: 1098232; HomoloGene: 7796; GeneCards: KIF12; OMA:KIF12 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
[edit]Mutations in KIF12 are associated with cholestatic liver disease.[5]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000136883 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028357 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.