Aliases for KIF1BP Gene
External Ids for KIF1BP Gene
Previous HGNC Symbols for KIF1BP Gene
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]
GeneCards Summary for KIF1BP Gene
KIF1BP (KIF1 Binding Protein) is a Protein Coding gene. Diseases associated with KIF1BP include Goldberg-Shprintzen Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome. Gene Ontology (GO) annotations related to this gene include kinesin binding.
UniProtKB/Swiss-Prot for KIF1BP Gene
Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.