We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Cell lines sorted after organ of phenotypic resemblance.
Cell lines sorted after biological source for establishment.
Cell lines sorted after the cell line category according to Cellosaurus.
Cell lines sorted on descending RNA expression.
Cell lines sorted alphabetically.
GENE INFORMATION
Gene name
MKS1 (HGNC Symbol)
Synonyms
BBS13, FLJ20345, MKS, POC12
Description
Meckel syndrome, type 1 (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Q9NXB0 [Direct mapping] Meckel syndrome type 1 protein
Show all
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9NXB0 [Direct mapping] Meckel syndrome type 1 protein
Show all
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)