FAM83A

Chr 8

scaffolding CK1 anchoring protein A

Also known as: BJ-TSA-9, FAM83A

NCBI Gene: 84985 ENSG00000147689 UniProt: Q86UY5 OMIM: 621022

FAM83A encodes a protein that binds to phosphatidylinositol 3-kinase regulatory subunits and protein kinases, and is involved in maintaining mitochondrial function during adipogenesis and epidermal growth factor receptor signaling. Mutations cause amelogenesis imperfecta type IIIA, a disorder of tooth enamel formation, with autosomal dominant inheritance. The gene shows low constraint against loss-of-function variants (LOEUF 1.408), suggesting some tolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

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

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.41LOEUF

pLI 0.000

Z-score 0.49

OE 0.85 (0.54–1.41)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.48Z-score

OE missense 0.92 (0.83–1.02)

251 obs / 273.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.85 (0.54–1.41)

0≤0.351.4

Missense OE?0.92 (0.83–1.02)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 11 / 12.9Missense obs/exp: 251 / 273.5Syn Z: 0.87

Background carrier burden — how many people carry a rare variant somewhere in FAM83A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 76

681 rare PASS variants

Rare truncating (LoF)

1 in 1,800

107 rare PASS variants

Rare synonymous (reference)

1 in 170

282 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FAM83A. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 99	1 in 1,900
South Asian	~43k	1 in 57	1 in 510
Remaining (unassigned)	~30k	1 in 63	1 in 1,400
European (Finnish)	~27k	1 in 200	1 in 1,100
Admixed American	~22k	1 in 75	1 in 1,400
African / African American	~21k	1 in 88	1 in 360
East Asian	~20k	1 in 64	1 in 1,000
Ashkenazi Jewish	~13k	1 in 360	≈ 1 in 4,200
Middle Eastern	~2,884	1 in 100	1 in 350

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.