background:
This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]
Function:
Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair.
Subcellular Location:
Cytoplasm > cytoskeleton > microtubule organizing center > centrosome. Midbody. Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A.
Tissue Specificity:
Strongest expression in the adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. Intermediate levels are detected in other structures, including the spinal cord.
DISEASE:
Spastic paraplegia 15, autosomal recessive
Similarity:
Contains 1 FYVE-type zinc finger.
Database links:
Entrez Gene: 51882 Cow
Entrez Gene: 23503 Human
Entrez Gene: 211978 Mouse
Entrez Gene: 314265 Rat
Omim: 612012 Human
SwissProt: E1BLZ4 Cow
SwissProt: Q68DK2 Human
SwissProt: Q5DU37 Mouse
SwissProt: D4A8G9 Rat
Unigene: 19641 Human
Unigene: 297919 Mouse
Unigene: 16048 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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