FANCE Gene

Alternative Names

  • FANCE
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OMIM Number

613976

NCBI Gene ID

2178

Uniprot ID

Q9HB96

Length

14,769 bases

No. of Exons

10

No. of isoforms

1

Protein Name

Fanconi anemia group E protein

Molecular Mass

58711 Da

Amino Acid Count

536

Genomic Location

chr6:35,452,338-35,467,106

Gene Map Locus
6p21.31

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 E. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021922.3:c.334delLebanonNC_000006.12:g.35455832delPathogenicPathogenicFanconi Anemia, Complementation Group ENG_011708.1:g.8472del; NM_021922.3:c.334del; NP_068741.1:p.Ser112ValfsTer1414794453481322887
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