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Rabbit Anti-FAM96B/FITC Conjugated antibody
background:
Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The FAM96B gene product has been provisionally designated FAM96B pending further characterization.
Function:
Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD.
Subunit:
Component of the CIA complex. Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with ERCC2 and MMS19; the interaction is direct.
Subcellular Location:
Nucleus. Cytoplasm, cytoskeleton, spindle.
Similarity:
Belongs to the MIP18 family.
Database links:
Entrez Gene: 51647 Human
Entrez Gene: 68523 Mouse
Entrez Gene: 136987 Rat
Omim: 614778 Human
SwissProt: Q9Y3D0 Human
SwissProt: Q9D187 Mouse
Unigene: 9825 Human
Unigene: 279 Mouse
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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