Anti-FANCI monoclonal antibody (DCABH-11494) Made to order

Rabbit anti-Human FANCI monoclonal antibody for WB, ELISA

View other FANCI antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human FANCI is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
FANCI; Fanconi anemia, complementation group I; KIAA1794; Fanconi anemia group I protein; FLJ10719
Entrez Gene ID
UniProt ID

Product Background


Gene summary
FANCI (Fanconi Anemia Complementation Group I) is a Protein Coding gene. Diseases associated with FANCI include fanconi anemia, complementation group i and fanconi anemia, complementation group a. Among its related pathways are Gene Expression and DNA Double-Strand Break Repair. GO annotations related to this gene include DNA polymerase binding. The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms.
Antigen Description
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. Fanconi anemia complementation group I (FANCI) [MIM:609053]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene represented in this entry. Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI gene. Mutations in the FANCI gene are known to cause Fanconi anemia. The function about FANCI antigen include protein binding.
Pathway
DNA Repair, organism-specific biosystem; Fanconi Anemia pathway, organism-specific biosystem; Fanconi anemia pathway, conserved biosystem; Regulation of the Fanconi anemia pathway, organism-specific biosystem.

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References


Tumini, E; Plevani, P; et al. Physical and functional crosstalk between Fanconi anemia core components and the GINS replication complex. DNA REPAIR 10:149-158(2011).
Chaudhury, I; Sareen, A; et al. FANCD2 regulates BLM complex functions independently of FANCI to promote replication fork recovery. NUCLEIC ACIDS RESEARCH 41:6444-6459(2013).

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