Gene: LOC107986061

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: RAD18

Alternate names for this Gene: RNF73

Gene Summary: The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: RAD18 E3 ubiquitin protein ligase

Type of Gene: protein-coding

Gene: CAV3

Alternate names for this Gene: LGMD1C|LQT9|MPDT|RMD2|VIP-21|VIP21

Gene Summary: This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: caveolin 3

Type of Gene: protein-coding