Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the ''CC2D2A''
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
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in
cilia
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 proj ...
formation.
Clinical significance
Mutations in the CC2D2A gene are associated with
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 ...
as well as
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 ...
.
References
External links
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Further reading
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