Reactive species
Human; Mouse;Rat
Antibody type
Polyclonal Antibody
Immunogen
Synthesized peptide derived from human KBP AA range: 542-592
Specificity
This antibody detects endogenous levels of KBP at Human/Mouse/Rat
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
disease:Defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]. GOSHS is characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome.,function: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.,similarity:Belongs to the KIF1-binding protein family.,subunit:Interacts with KIF1B.,tissue specificity:Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes.,
