XB-GENEPAGE-1221179
???displayGene.symbol???:
mks1
???displayGene.name???:
Meckel syndrome, type 1
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(
Nomenclature history )
???displayGene.geneFunction???
Uncharacterized conserved protein
AI Protein Function
:
mks1 encodes a basal‑body and transition‑zone protein that localizes to centrosomes and the base of primary cilia, functions in ciliogenesis and mediates Hedgehog pathway activity, and is required for ...[+]
InterPro
:
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Diseases:
Disease Ontology:
Joubert syndrome
MIM:
BARDET-BIEDL SYNDROME 1; BBS1
External Links:
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