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Immunogen sequence: MNRTKGDEEE YWNSSKFKAF TFDDEDDELS QLKESKRAVN SLRDFVDDDD DDDLERVSWS GEPVGSISWS IRETAGNSGS THEGREQLKS RNSFSSYAQL PKPTSTYSLS SFFRGRTRPG SFQSLSDALS DTPAKSYAPE LGRPKGEYRD YSNDWSPSDT VRRLRKGKVC SLERFRSLQD KLQLLEEAVS MHDGNVITAV LIFLKRTLSK EILFRELEVR
This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.
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Protein Aliases: hSPE-39; protein spe-39 homolog; Spermatogenesis-defective protein 39 homolog; VPS33B-interacting protein in apical-basolateral polarity regulator; VPS33B-interacting protein in polarity and apical restriction; VPS33B-interacting protein involved in polarity and apical protein restriction
Gene Aliases: 6720456H09Rik; 9330175H22Rik; AI413782; C14orf133; hSPE-39; SPE-39; SPE39; VIPAR; VIPAS39; VPS16B
UniProt ID: (Human) Q9H9C1, (Mouse) Q8BGQ1
Entrez Gene ID: (Human) 63894, (Mouse) 104799
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