SELENBP1

Chr 1

selenium binding protein 1

Also known as: EHMTO, HEL-S-134P, LPSB, MTO, SBP56, SP56, hSBP

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtExtraoral halitosis due to methanethiol oxidase deficiency

Clinical highlights

Gene-disease validity (ClinGen)
extraoral halitosis due to methanethiol oxidase deficiency · ARModerateconsider for supplementary testing
0
Active trials
35
Pubs (1 yr)
P/LP submissions
P/LP missense
1.29
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.29LOEUF
pLI 0.000
Z-score 0.35
OE 0.93 (0.671.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.45Z-score
OE missense 0.92 (0.831.02)
262 obs / 283.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.93 (0.671.29)
00.351.4
Missense OE?0.92 (0.831.02)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 25 / 27.0Missense obs/exp: 262 / 283.3Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SELENBP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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