Gene Symbol | KIFBP |
Entrez Gene ID | 26128 |
Full Name | KIF1 binding protein |
Synonyms | KBP,KIAA1279,TTC20 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Goldberg-Shprintzen megacolon syndrome, 609460 (3) |