Gene: VCP
Alternate names for this Gene: CDC48|TERA|p97
Gene Summary: This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients.
Gene is located in Chromosome: 9
Location in Chromosome : 9p13.3
Description of this Gene: valosin containing protein
Type of Gene: protein-coding
Gene: FANCG
Alternate names for this Gene: FAG|XRCC9
Gene 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 G.
Gene is located in Chromosome: 9
Location in Chromosome : 9p13.3
Description of this Gene: FA complementation group G
Type of Gene: protein-coding
rs397507560 in
VCP;FANCG gene and
Fanconi Anemia
PMID 12552564 2003 Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.
PMID 11438206 2001 Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.
PMID 11093276 2000 Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.