AMELY

Chr Y

amelogenin Y-linked

Also known as: AMGL, AMGY

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.95
LOEUF
Multiple*
Mechanism· predicted
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?
1.95LOEUF
pLI 0.000
Z-score -1.12
OE 1.70 (0.761.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.13Z-score
OE missense 1.06 (0.811.42)
33 obs / 31.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.70 (0.761.95)
00.351.4
Missense OE?1.06 (0.811.42)
00.61.4
Synonymous OE?1.14
01.21.6
LoF obs/exp: 5 / 2.9Missense obs/exp: 33 / 31.0Syn Z: -0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AMELY · 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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