DYNC2H1
Encyclopedia
Cytoplasmic dynein 2 heavy chain 1 is a protein
that in humans is encoded by the DYNC2H1 gene
.
It is associated with Short rib-polydactyly syndrome
type 3.
It is also associated with Asphyxiating thoracic dysplasia
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the DYNC2H1 gene
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...
.
It is associated with Short rib-polydactyly syndrome
Short rib-polydactyly syndrome
Short rib – polydactyly syndrome is a family of four closely related dysplasias:* I - "Saldino-Noonan type"* II - "Majewski type"* III - "Verma-Naumoff type" * IV - "Beemer-Langer type"-References:...
type 3.
It is also associated with Asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.It is also known as "Jeune syndrome".It was characterized in 1955.Types include:...
.