MROH1

protein-coding

maestro heat like repeat family member 1, the group of Maestro heat like repeat containing

Gene summary

Enables membrane destabilizing activity. Involved in lysosome fission. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

HEATR7A

MANE transcript

NM_032450.3

Inheritance

—

ClinVar variants

U:70B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.25

Max pathogenic AF

—

Genomic locus

chr8:144,148,016-144,261,927

External References & Databases

Ensembl (ENSG00000179832)

Transcript & Mutation Effects

hg38 • Region Span ~113.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MROH1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 72

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032450.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	1 clinvar		5
missense			63 clinvar	10 clinvar		73
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	70	11	0	81

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 138 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032450.3	RefSeq	NP_115826.3	42	MANE Select
ENST00000326134.10	Ensembl	ENSP00000321737.5	42	MANE Select
NM_001099280.3	RefSeq	NP_001092750.2	11	Standard
NM_001099281.3	RefSeq	NP_001092751.2	11	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000528919
Coding exons: 42
Length: 113925
Individuals with no LoFs: 124632
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 124669
p: 0.000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.598	252	280	0.899	0.0000180	10516
Missense (PolyPhen)		35	50.899	0.68764		1519
Synonymous	-0.860	144	131	1.10	0.00000940	3504
Loss of Function	3.45	6	24.3	0.246	0.00000128	909

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000064	rare
Latino/Admixed American	0.00038	0.00038	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0014	0.00072	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.000046	0.000044	rare
South Asian	0.00017	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium