FANCI

Also known as KIAA1794, Fanconi anemia complementation group I, FA complementation group I

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.

Gene data

FANCI

Name: FA complementation group I
Type: protein-coding
Aliases: KIAA1794

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. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

FA complementation group I

Symbol: FANCI
Biotype: Protein coding
Organism: Homo sapiens
Location: 15:89,243,854-89,318,091
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 49530
exact match: identifiers.org/ncbigene/55215
genomic end: 89860492
genomic start: 89243945
cytogenetic location: 15q26.1

Sources (6)

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Contents

Function
Meiosis
References
Further reading
External links

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.

== Function ==