FANCM

Fanconi anemia complementation group M

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Tracheoesophageal fistula
  • Fanconi anemia, complementation group M

Cytogenetic Location: 14q21.2, which is the long (q) arm of chromosome 14 at position 21.2

Molecular Location: base pairs 45,135,939 to 45,200,890 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q21.2, which is the long (q) arm of chromosome 14 at position 21.2
  • FAAP250
  • KIAA1596