基因名:
TRIM32
产品别名:
BBS11; HT2A; LGMD2H; LGMDR8; TATIP; TRIM32; tripartite motif containing 32; tripartite motif containing 32; E3 ubiquitin-protein ligase TRIM32; 72 kDa Tat-interacting protein; RING-type E3 ubiquitin transferase TRIM32; TAT-interactive protein, 72-KD; tripartite motif-containing protein 32; zinc-finger protein HT2A; 神经干细胞抑制相关蛋白TRIM32;
背景信息:
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.