TMEM79

Chr 1

transmembrane protein 79

Also known as: MATT

NCBI Gene: 84283 ENSG00000163472 UniProt: Q9BSE2 OMIM: 615531

Enables identical protein binding activity. Predicted to be involved in several processes, including epithelial cell maturation; establishment of skin barrier; and positive regulation of epidermis development. Predicted to act upstream of or within cornification; cuticle development; and hair follicle morphogenesis. Predicted to be located in Golgi apparatus; lysosome; and membrane. Predicted to be active in lysosomal membrane and trans-Golgi network membrane. [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

1.22

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.22LOEUF

pLI 0.000

Z-score 0.96

OE 0.72 (0.44–1.22)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.42Z-score

OE missense 1.07 (0.97–1.19)

264 obs / 245.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.72 (0.44–1.22)

0≤0.351.4

Missense OE?1.07 (0.97–1.19)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 10 / 13.9Missense obs/exp: 264 / 245.7Syn Z: -0.39

Background carrier burden — how many people carry a rare variant somewhere in TMEM79?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 51

663 rare PASS variants

Rare truncating (LoF)

1 in 900

112 rare PASS variants

Rare synonymous (reference)

1 in 400

164 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMEM79. 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 100	1 in 1,100
South Asian	~43k	1 in 57	1 in 340
Remaining (unassigned)	~30k	1 in 59	1 in 970
European (Finnish)	~27k	1 in 640	1 in 680
Admixed American	~22k	1 in 60	1 in 600
African / African American	~21k	1 in 78	1 in 290
East Asian	~20k	1 in 52	1 in 1,500
Ashkenazi Jewish	~13k	1 in 190	1 in 910
Middle Eastern	~2,884	1 in 41	≈ 1 in 2,700

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 ↓