MKS1抗原（重組蛋白）

Full name:

Meckel syndrome, type 1

Synonyms:

MES; MKS; BBS13; POC12; JBTS28

Swissprot:

Q9NXB0

Gene Accession:

BC010061

Purity:

>85%, as determined by Coomassie blue stained SDS-PAGE

Expression system:

Escherichia coli

Tags:

His tag C-Terminus, GST tag N-Terminus

Background:

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.