CC2D2A
Encyclopedia
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by tbe CC2D2A gene
.
as well as Joubert syndrome
.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.Clinical significance
Mutations in the CC2D2A gene are associated with Meckel syndromeMeckel syndrome
Meckel syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.Meckel-Gruber syndrome is named for Johann...
as well as Joubert syndrome
Joubert syndrome
Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.-Diagnosis:...
.