MOCS3

Chr 20

molybdenum cofactor synthesis 3

Also known as: MOCODB2, UBA4

Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMolybdenum cofactor deficiency, type B2

Clinical highlights

Gene-disease validity (ClinGen)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 · ARLimitednot for standalone diagnostic reporting
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.36
LOEUF
DN
Mechanism· predicted
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GeneReview available — MOCS3
Authoritative clinical overview · Recommended first read
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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?
1.36LOEUF
pLI 0.000
Z-score 0.64
OE 0.80 (0.491.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.67Z-score
OE missense 0.89 (0.800.98)
246 obs / 277.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.80 (0.491.36)
00.351.4
Missense OE?0.89 (0.800.98)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 10 / 12.5Missense obs/exp: 246 / 277.5Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MOCS3 · 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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