Gene: [22q112/UFD1L] ubiquitin fusion degradation 1-like protein;
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COM |
The gene encodes the human homolog of the yeast ubiquitin fusion degradation 1 (UFD1) protein that is involved in the degradation of ubiquitin fusion proteins (see GEM:00.0/UBA1). The proteolytic pathway recognizing ubiquitin fusion proteins for degradation is conserved in vertebrates and that UFD1L gene hemizygosity may be the cause of some of the CATCH22-associated developmental defects (GEM:22q112/DGCR) (Pizutti-1997)." |
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REF |
IDN,LOC,ASS,PAT "Pizutti A &: Hum Mol Genet, 6, 259-265, 1997 |
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KEY |
exce, eye |
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CLA |
coding, basic |
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LOC |
22 q11.2 |
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MIM |
MIM: 601754 |
