MROH6

Chr 8

maestro heat like repeat family member 6

Also known as: C8orf73

NCBI Gene: 642475 ENSG00000204839 UniProt: A6NGR9

The MROH6 protein is predicted to be active in the cytoplasm, but its specific cellular function remains unclear. Mutations in this gene have been associated with neurodevelopmental disorders, though the clinical phenotype and inheritance pattern are not well-established from current data. This gene appears to tolerate loss-of-function variants well based on constraint metrics.

ResearchSummary from RefSeq

Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.35LOEUF

pLI 0.000

Z-score 0.09

OE 0.98 (0.72–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.66Z-score

OE missense 1.10 (1.01–1.19)

402 obs / 366.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.98 (0.72–1.35)

0≤0.351.4

Missense OE?1.10 (1.01–1.19)

0≤0.61.4

Synonymous OE?1.15

0≤1.21.6

LoF obs/exp: 27 / 27.5Missense obs/exp: 402 / 366.4Syn Z: -1.56

Background carrier burden — how many people carry a rare variant somewhere in MROH6?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 28

1,467 rare PASS variants

Rare truncating (LoF)

1 in 160

276 rare PASS variants

Rare synonymous (reference)

1 in 86

408 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MROH6. 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 35	1 in 220
South Asian	~43k	1 in 30	1 in 160
Remaining (unassigned)	~30k	1 in 25	1 in 120
European (Finnish)	~26k	1 in 100	1 in 350
Admixed American	~22k	1 in 27	1 in 110
African / African American	~21k	1 in 25	1 in 170
East Asian	~20k	1 in 34	1 in 220
Ashkenazi Jewish	~13k	1 in 130	1 in 700
Middle Eastern	~2,884	1 in 25	1 in 190

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 12 of 14 coding exons well covered in gnomAD exomes; exons 9, 14 marginal. Genomes: all 14.? see exons ↓