ANAPC1 Chromosome 2
Anaphase promoting complex subunit 1
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What This Gene Does
This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Anaphase promoting complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q13
Ensembl
ENSG00000153107
Associated Conditions (1)
Rothmund-Thomson syndrome type 1
Key Variants
RS146218010
Conflicting classifications of pathogenicity
Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
Health Risk
RS548028803
Conflicting classifications of pathogenicity
Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
Health Risk
RS1267333057
Pathogenic
Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
Health Risk
RS1573454278
Pathogenic
Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
Health Risk
RS999743155
Pathogenic/Likely pathogenic
Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146218010 | Health Risk | Conflicting classifications of pathogenicity | Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1 |
| RS548028803 | Health Risk | Conflicting classifications of pathogenicity | Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1 |
| RS1267333057 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1 |
| RS1573454278 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1 |
| RS999743155 | Health Risk | Pathogenic/Likely pathogenic | Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1 |