GAN (gene)
Encyclopedia
Gigaxonin also known as kelch-like protein 16 is a protein
that in humans is encoded by the GAN gene
.
/ kelch
(Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.) Gigaxonin plays a role in neurofilament
architecture and is mutated in giant axonal neuropathy
.
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 GAN 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...
.
Function
Gigaxonin is a member of the cytoskeletal BTBBTB/POZ domain
The BTB/POZ domain is a common structural domain contained within some proteins.The BTB or POZ domain is present near the N-terminus of a fraction of zinc finger proteins and in proteins that contain the Kelch motif and a family of pox virus proteins...
/ kelch
Kelch motif
The Kelch motif is a region of protein sequence found widely in proteins from bacteria and eukaryotes. The motif is named after the Drosophila mutant in which it was first identified. This sequence motif is composed of about 50 amino acid residues which form a structure of a four stranded...
(Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.) Gigaxonin plays a role in neurofilament
Neurofilament
Neurofilaments are the 10 nanometer intermediate filaments found specifically in neurons. They are a major component of the cell's cytoskeleton, and provide support for normal axonal radial growth...
architecture and is mutated in giant axonal neuropathy
Giant axonal neuropathy
Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function.-Diagnosis:Giant axonal neuropathy...
.