Meckelin is a protein that in humans is encoded by the ''TMEM67'' gene.

Function

The protein encoded by this gene localizes to the primary cilium 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, and a ...

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

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 fashion and, although rare, is the most common genetic cause o ...

and

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

type 6 (JBTS6).

Function

Clinical significance

See also

References

Further reading