FAM83A

Chr 8AD

scaffolding CK1 anchoring protein A

Also known as: BJ-TSA-9, FAM83A

Enables identical protein binding activity; phosphatidylinositol 3-kinase regulatory subunit binding activity; and protein kinase binding activity. Involved in cell population proliferation and epidermal growth factor receptor signaling pathway. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Amelogenesis imperfecta, type IIIAMIM #130900
AD
0
Active trials
40
Pubs (1 yr)
P/LP submissions
P/LP missense
1.41
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.41LOEUF
pLI 0.000
Z-score 0.49
OE 0.85 (0.541.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.48Z-score
OE missense 0.92 (0.831.02)
251 obs / 273.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.541.41)
00.351.4
Missense OE?0.92 (0.831.02)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 11 / 12.9Missense obs/exp: 251 / 273.5Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAM83A · 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.

Search ClinicalTrials.gov →