Gene Symbol |
GAN
|
Entrez Gene |
8139
|
Alt Symbol |
GAN1, KLHL16
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
gigaxonin
|
Other Description |
kelch-like family member 16|kelch-like protein 16
|
Swissprots |
Q9H2C0
|
Accessions |
EAW95535 Q9H2C0 AF291673 AAG35311 AK095378 BAG53035 BC016717 BC044840 AAH44840 HQ257897 ADR82652 NM_022041 NP_071324
|
Function |
Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival. {ECO:0000269|PubMed:12147674, ECO:0000269|PubMed:15983046, ECO:0000269|PubMed:16227972, ECO:0000269|PubMed:16303566}.
|
Subcellular Location |
Cytoplasm. Cytoplasm, cytoskeleton.
|
Tissue Specificity |
Expressed in brain, heart and muscle. {ECO:0000269|PubMed:12147674}.
|