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

Gene: OXTR

Alternate names for this Gene: OT-R

Gene Summary: The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: oxytocin receptor

Type of Gene: protein-coding