Vacuolar Protein Sorting 37D (VPS37D)
Английские синонимы
WBSCR24; Williams Beuren Syndrome Chromosome Region 24; ESCRT-I complex subunit VPS37D
By searching a database for sequences homologous to yeast Vps37, Stuchell et al. (2004) identified human VPS37D. The deduced 316-amino acid protein has a central mod(r) (modifier of rudimentary) domain containing 2 coiled-coil motifs.Micale et al. (2008) identified and cloned VPS37D, which they called WBSCR24. They also identified the mouse Wbscr24 gene. Northern blot analysis detected several variants of mouse Wbscr24 that were widely expressed in a tissue-specific manner. Expression of Wbscr24 was highest in brain, kidney, and skeletal muscle.By genomic sequence analysis, Micale et al. (2008) mapped the VPS37D gene to chromosome 7q11.23 within the interval deleted in WBS. They mapped the mouse Vps37D gene to a syntenic region of chromosome 5G1.
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