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Protein Page:
KIF1BP (human)

Overview
KIF1BP Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity. Defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome (GOSHS). GOSHS is characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome. Belongs to the KIF1-binding protein family. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 10q22.1
Cellular Component: mitochondrion
Molecular Function: kinesin binding; protein binding
Biological Process: mitochondrial transport; nervous system development
Disease: Goldberg-shprintzen Syndrome
Reference #:  Q96EK5 (UniProtKB)
Alt. Names/Synonyms: DKFZp586B0923; KBP; KIAA1279; KIF1-binding protein; KIF1BP; TTC20
Gene Symbols: KIF1BP
Molecular weight: 71,814 Da
Basal Isoelectric point: 5.34  Predict pI for various phosphorylation states
Select Structure to View Below

KIF1BP

Protein Structure Not Found.


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