Disease relevance of KIF13A

• Genomic amplification in retinoblastoma narrowed to 0.6 megabase on chromosome 6p containing a kinesin-like gene, RBKIN [1].

High impact information on KIF13A

• Thus, KIF13A transports M6PR-containing vesicles and targets the M6PR from TGN to the plasma membrane via direct interaction with the AP-1 adaptor complex [2].
• A novel motor, KIF13A, transports mannose-6-phosphate receptor to plasma membrane through direct interaction with AP-1 complex [2].
• Quantitative-multiplex PCR analysis identified in 41 of 70 (59%) RBs a 0.6-Mb minimal region of chromosome 6p22 gain from which we cloned the human kinesin gene, RBKIN/KIF13A, by rapid amplification of retinal cDNA [1].
• Antisense RBKIN oligonucleotide reduced the growth rate of RB cell lines [1].
• RBKIN and/or another closely linked gene are candidate oncogenes contributing to malignant progression of RB [1].

Biological context of KIF13A

• We provide sequences of 20 single-nucleotide polymorphisms localized within KIF13A to test for association studies between this gene and schizophrenia [3].
• The putative function and genomic localization of KIF13A make this gene an interesting candidate for genetic predisposition to schizophrenia [3].

Anatomical context of KIF13A

• RBKIN is expressed ubiquitously in adult tissues, at low levels in fetal tissues, and at high levels in RB [1].

Other interactions of KIF13A

• Functional blockade of KIF13A reduced cell surface expression of the M6PR [2].

References