ALEXA FLUOR 680 Rabbit anti-Mouse TRIM32/BBS11 Polyclonal Antibody, ALEXA FLUOR 680 Conjugated [IgG]

72 kda Tat interacting Protein; BBS11; HT2A; LGMD2H; Limb girdle muscular dystrophy 2H autosomal recessive; Limb girdle muscular dystrophy 2H; Muscular dystrophy Hutterite type; TAT interactive protein 72KD; TATIP; Tripartite Mot Containing Protein 32; Zinc Finger Protein HT2A; TRI32_MOUSE.

Tripartite motif-containing protein 32 (TRIM32) belongs to the tripartite motif (TRIM) protein family. TRIM32, like all TRIM proteins, contains a domain structure composed of a B-box, a RING-finger and a coiled-coil motif. Additionally, TRIM32 has six C-terminal NHL domains; it is expressed mainly in the skeletal muscle. The TRIM32 gene encodes an E3 ubiquitin ligase, a protein that attaches ubiquitin to a lysine residue on a target protein and acts in conjunction with ubiquitin-conjugating enzymes UbcH5a, UbcH5c and UbcH6. Mutations in the TRIM32 gene cause two forms of autosomal recessive muscular dystrophy designated limb girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy (STM). TRIM32 mutations can also result in Bardet-Biedl syndrome (BBS), an autosomal recessive disorder characterized by pigmentary retinopathy, polydactyly, hypogenitalism, renal abnormalities, learning disabilities and obesity.