FANCM Gene

Alternative Names

  • FANCM
  • Fanconi Anemia-Associated Polypeptide, 250-KDFAAP250
  • KIAA1596
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OMIM Number

609644

NCBI Gene ID

57697

Uniprot ID

Q8IYD8

Length

64,961 bases

No. of Exons

25

No. of isoforms

3

Protein Name

Fanconi anemia group M protein

Molecular Mass

232191 Da

Amino Acid Count

2048

Genomic Location

chr14:45,135,930-45,200,890

Gene Map Locus
14q21.2

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 M. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020937.4:c.5224A>GLebanonchr14:45189246Benign, Likely BenignUncertain SignificanceBreast CancerNG_007417.1:g.58314A>G; NM_020937.4:c.5224A>G; NP_065988.1:p.Ile1742Val143662421241324
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