FANCI Gene

Alternative Names

  • FANCI
  • KIAA1794
Back to search Result
OMIM Number

611360

NCBI Gene ID

55215

Uniprot ID

Q9NVI1

Length

73,313 bases

No. of Exons

38

No. of isoforms

4

Protein Name

Fanconi anemia group I protein

Molecular Mass

149324 Da

Amino Acid Count

1328

Genomic Location

chr15:89,243,949-89,317,261

Gene Map Locus
15q26.1

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001113378.1:c.1289_1290delUnited Arab EmiratesNC_000015.10:g.89276887_89276888delNG_011736.1:g.37925_37926del; NM_001113378.1:c.1289_1290del; NP_001106849.1:p.Phe430Ter
NM_001113378.2:c.2986C>ALebanonchr15:89301422PathogenicFanconi Anemia, Complementation Group ING_011736.1:g.62460C>A; NM_001113378.2:c.2986C>A; NP_001106849.1:p.Leu996Met
© CAGS 2024. All rights reserved.