SELENBP1 Chromosome 1
Selenium binding protein 1
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What This Gene Does
This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
Associated Conditions (2)
Extra oral halitosis
Extraoral halitosis due to methanethiol oxidase deficiency
Key Variants
RS1553204817
Likely pathogenic
Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency, Extra oral halitosis
Health Risk
RS1553204840
Likely pathogenic
Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency, Extra oral halitosis
Health Risk
RS758495626
Likely pathogenic
Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency, Extra oral halitosis
Health Risk
RS1357490520
Pathogenic
Extraoral halitosis due to methanethiol oxidase deficiency, Extraoral halitosis due to methanethiol oxidase deficiency
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553204817 | Health Risk | Likely pathogenic | Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency, Extra oral halitosis |
| RS1553204840 | Health Risk | Likely pathogenic | Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency, Extra oral halitosis |
| RS758495626 | Health Risk | Likely pathogenic | Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency, Extra oral halitosis |
| RS1357490520 | Health Risk | Pathogenic | Extraoral halitosis due to methanethiol oxidase deficiency, Extraoral halitosis due to methanethiol oxidase deficiency |