SAXO6

Mdm1 nuclear protein

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000111554
UniProt:: Q8TC05
OMIM:: 613813
Synonyms:: MDM1

Phenotypes

Mouse phenotype:: short tibia

Ciliopathy associations

Retinal Dystrophy/Degeneration

References: PMID:41742423

Subcellular localization

basal body, cilia, nucleus, Centriolar satellite, Cytosol

References: PMID:26337392, PMID:23300604, PMID:27658201

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Signaling (Hedgehog, GPCRs, ion channels)
Metabolism
Motile cilium & axoneme
Non-motile cilium / primary cilium
Cilia–cytoskeleton/adhesion links

Function

Upregulated during ciliogenesis (23300604). Microtubule- binding protein. Negative regulator of centriole duplication through microtubule binding. Overexpression of MDM1 suppresses centriole duplication and results in stabilization of (26337392). It might interact with members of the Hedgehog signaling pathway, as this pathway is tightly linked with cilia (27658201)

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