Meckel syndrome type 1 protein (MKS1)

Function

• role in ciliary basal body structure/function (putative)

Structure

• contains 1 B9 domain

Alternative splicing

named isoforms=2

Pathology

• defects in MKS1 are the cause of Meckel syndrome type 1

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/249000
• UniProt: http://www.uniprot.org/uniprot/Q9NXB0.html