ASGR1
asialoglycoprotein receptor 1
Summary
This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2069162290 | 17:7,077,127 | C/A | — | uncertain significance |
| rs2069165033 | 17:7,077,366 | T/C | — | likely benign |
| rs1267248033 | 17:7,077,477 | C/T | — | uncertain significance |
| rs765525009 | 17:7,077,493 | G/C | — | uncertain significance |
| rs1176161814 | 17:7,077,568 | G/C | — | uncertain significance |
| rs369316332 | 17:7,077,585 | C/G | — | uncertain significance |
| rs1286384333 | 17:7,077,749 | T/C | — | uncertain significance |
| rs12945299 | 17:7,080,069 | A/T | — | — |
| rs1346724951 | 17:7,080,310 | C/G | — | uncertain significance |
| rs151284398 | 17:7,080,392 | G/T | — | uncertain significance |
| rs779694146 | 17:7,080,634 | G/A | — | uncertain significance |
| rs138040706 | 17:7,081,867 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.