UBQLN1 Chromosome 9

Ubiquilin 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ubiquilin family
Locus Type
gene with protein product
Location
9q21.32
Ensembl
ENSG00000135018
Associated Conditions (1)
Abnormal brain morphology
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1060499753 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
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