HMMR Chromosome 5
Hyaluronan mediated motility receptor
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What This Gene Does
The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
5q34
Ensembl
ENSG00000072571
Associated Conditions (1)
Ovarian cancer
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1411888500 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, Ovarian cancer |
| RS780743612 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |