FANCM (NM_020937) - FA complementation group M
Fanconi Anemia Group M Protein Isoform 1
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Protein summary
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. [provided by RefSeq, Apr 2015].
- Strand
- +
- Chromosome
- 14
- Protein
- 2048 residues
- All mutations
- 713
- PTM sites
- 32
- CDS
- 45,605,234 - 45,669,211
- Transcription
- 45,605,141 - 45,670,093
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