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GNB1L is a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. Therefore, this gene may contribute to the etiology of those disorders.This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders.
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蛋白别名: DGCRK3; G protein subunit beta-like protein 1; G-protein beta subunit-like protein; guanine nucleotide binding protein (G protein), beta polypeptide 1-like; guanine nucleotide binding protein beta-subunit-like polypeptide; Guanine nucleotide-binding protein subunit beta-like protein 1; WD repeat-containing protein 14; WD40 repeat-containing protein deleted in VCFS; WDVCF
基因别名: DGCRK3; FKSG1; GNB1L; GY2; KIAA1645; WDR14; WDVCF
UniProt ID: (Human) Q9BYB4
Entrez Gene ID: (Human) 54584