Gene: FANCL

Alternate names for this Gene: FAAP43|PHF9|POG

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.1

Description of this Gene: FA complementation group L

Type of Gene: protein-coding

Gene: VRK2

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.1

Description of this Gene: VRK serine/threonine kinase 2

Type of Gene: protein-coding