AAMDC

Chr 11

adipogenesis associated Mth938 domain containing

Also known as: C11orf67, CK067, PTD015

NCBI Gene: 28971 ENSG00000087884 UniProt: Q9H7C9 OMIM: 620474

Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.84

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.84LOEUF

pLI 0.000

Z-score -0.38

OE 1.16 (0.67–1.84)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.13Z-score

OE missense 1.04 (0.86–1.28)

68 obs / 65.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.16 (0.67–1.84)

0≤0.351.4

Missense OE?1.04 (0.86–1.28)

0≤0.61.4

Synonymous OE?1.19

0≤1.21.6

LoF obs/exp: 8 / 6.9Missense obs/exp: 68 / 65.1Syn Z: -0.71

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

264 rare PASS variants

Rare truncating (LoF)

1 in 720

59 rare PASS variants

Rare synonymous (reference)

1 in 500

102 rare PASS variants

Rare missense and truncating variants are carried at similar rates in AAMDC; this gene does not show strong loss-of-function constraint by this measure. 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 220	1 in 1,500
South Asian	~43k	1 in 110	1 in 500
Remaining (unassigned)	~30k	1 in 130	1 in 540
European (Finnish)	~27k	1 in 440	≈ 1 in 7,400
Admixed American	~22k	1 in 160	1 in 1,000
African / African American	~21k	1 in 220	1 in 1,300
East Asian	~20k	1 in 210	1 in 460
Ashkenazi Jewish	~13k	1 in 380	none seen
Middle Eastern	~2,884	1 in 360	≈ 1 in 840

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.

Exome coverage (gnomAD): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓