Meckelin is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''TMEM67''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

The protein encoded by this gene localizes to the primary

cilium The cilium (: cilia; ; in Medieval Latin and in anatomy, ''cilium'') is a short hair-like membrane protrusion from many types of eukaryotic cell. (Cilia are absent in bacteria and archaea.) The cilium has the shape of a slender threadlike pr ...

and to the plasma membrane. The gene functions in

centriole In cell biology a centriole is a cylindrical organelle composed mainly of a protein called tubulin. Centrioles are found in most eukaryotic cells, but are not present in conifers ( Pinophyta), flowering plants ( angiosperms) and most fungi, an ...

migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different

isoforms A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...

have been found for this gene.

Clinical significance

Defects in this gene are a cause of

Meckel syndrome Meckel may refer to: People German anatomist/physician family Meckel * Johann Friedrich Meckel, the Younger (1781–1833), German anatomist * Johann Friedrich Meckel, the Elder (1724–1774) German anatomist, grandfather of the Younger * Ph ...

type 3 (MKS3),

nephronophthisis Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive In genetics, dominance is the phenomenon of one variant ...

and

Joubert syndrome Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the Human brain, brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic ...

type 6 (JBTS6).

Function

Clinical significance

See also

References

Further reading