MKS1, Official Symbol MKS1provided by HGNC Official Full Name MKS transition zone complex subunit 1provided by HGNC Primary source HGNC:HGNC:7121 See related Ensembl:ENSG00000011143 MIM:609883; AllianceGenome:HGNC:7121 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MES; MKS; BBS13; POC12; JBTS28 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] Expression Ubiquitous expression in testis (RPKM 6.0), ovary (RPKM 4.9) and 25 other tissues See more Orthologs mouse all