meckelin (Meckel syndrome type 3 protein, transmembrane protein 67, TMEM67, MKS3)

Function

• related to the ciliary basal body (putative)

Compartment

• cell membrane

Alternative splicing

named isoforms=2

Expression

• widely expressed in adult & fetal tissues. strong expression in spinal cord

Pathology

• defects in TMEM67 are the cause of Meckel syndrome type 3

More general terms

• glycoprotein
• transmembrane 7 protein

Database

• OMIM: https://mirror.omim.org/entry/607361
• UniProt: http://www.uniprot.org/uniprot/Q5HYA8.html