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

General

glycoprotein transmembrane 7 protein

Properties

SIZE: MW = 112 kD entity length = 995 aa COMPARTMENT: cellular membrane MOTIF: transmembrane domain {9-29} N-glycosylation site {N242} transmembrane domain {526-546} transmembrane domain {570-590} transmembrane domain {609-629} transmembrane domain {689-709} transmembrane domain {734-754} transmembrane domain {939-959}

Database Correlations

OMIM 607361 UniProt Q5HYA8

References

UniProt :accession Q5HYA8