FANCL
Information FANCL
- Description
This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]
- Full Name
FA complementation group L
- Source NCBI
ReMap Statistics
- Datasets
- 1
- Biotypes
- 1
- Peaks
- 5,604
- Non-redundant peaks
- 5,604
TF Classification
- Super Class
- Unknown
- Class
- Unknown
- Familly
- Unknown
- Sub Familly
- Unknown
Source TFClass
External IDs
- JASPAR
- Ensembl
- ENSG00000115392
- UniProt
- Q9NW38
- Genevisible
- Q9NW38
- RefSeq
- NM_001114636
- Aliases
- FAAP43; FLJ10335; Pog