MPZL3

Chr 11

myelin protein zero like 3

NCBI Gene: 196264 ENSG00000160588 UniProt: Q6UWV2 OMIM: 611707

Predicted to be involved in cell adhesion. Predicted to act upstream of or within extracellular matrix organization and hair cycle. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in lung cancer. [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

1.95

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.95LOEUF

pLI 0.000

Z-score -1.91

OE 1.64 (1.08–1.95)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.31Z-score

OE missense 1.08 (0.94–1.24)

144 obs / 133.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.64 (1.08–1.95)

0≤0.351.4

Missense OE?1.08 (0.94–1.24)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 17 / 10.4Missense obs/exp: 144 / 133.9Syn Z: -0.30

Background carrier burden — how many people carry a rare variant somewhere in MPZL3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 89

333 rare PASS variants

Rare truncating (LoF)

1 in 500

45 rare PASS variants

Rare synonymous (reference)

1 in 930

91 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MPZL3. 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 140	1 in 780
South Asian	~43k	1 in 120	1 in 790
Remaining (unassigned)	~30k	1 in 150	1 in 490
European (Finnish)	~27k	1 in 1,700	≈ 1 in 13,000
Admixed American	~22k	1 in 160	1 in 460
African / African American	~21k	1 in 180	1 in 1,300
East Asian	~20k	1 in 110	1 in 460
Ashkenazi Jewish	~13k	1 in 1,100	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,900

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 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓