MOXD1

protein-coding

monooxygenase DBH like 1

Gene summary

Predicted to enable copper ion binding activity and dopamine beta-monooxygenase activity. Predicted to be involved in dopamine catabolic process; norepinephrine biosynthetic process; and octopamine biosynthetic process. Part of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_015529.4

Inheritance

—

ClinVar variants

U:106

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.08

Max pathogenic AF

—

Genomic locus

chr6:132,296,055-132,401,475

External References & Databases

Ensembl (ENSG00000079931)

Transcript & Mutation Effects

hg38 • Region Span ~105.4 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 MOXD1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 101

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015529.4. 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			2 clinvar			2
missense			101 clinvar			101
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	106	0	0	106

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015529.4	RefSeq	NP_056344.2	12	MANE Select
ENST00000367963.8	Ensembl	ENSP00000356940.3	12	MANE Select
ENST00000336749.3	Ensembl	ENSP00000336998.3	11	Standard
ENST00000336749.4	Ensembl	ENSP00000336998.3	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tyrosine metabolism
Pyrimidine metabolism

Biological Process

octopamine biosynthetic process
dopamine catabolic process
norepinephrine biosynthetic process
oxidation-reduction process

Molecular Function

dopamine beta-monooxygenase activity
copper ion binding
protein binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen

Cellular Component

extracellular space
cytoplasm
endoplasmic reticulum membrane
integral component of membrane
secretory granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367963
Coding exons: 12
Length: 105491
Individuals with no LoFs: 125601
Homozygous LoFs: 1
Heterozygous LoFs: 146
Defined: 125748
p: 0.000585

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.542	350	323	1.08	0.0000155	4014
Missense (PolyPhen)		152	137.07	1.1089		1645
Synonymous	-0.131	125	123	1.01	0.00000629	1143
Loss of Function	-0.412	32	29.6	1.08	0.00000159	342

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00062	0.00062	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.0018	0.0018	notable
European (Non-Finnish)	0.00063	0.00062	rare
South Asian	0.00036	0.00033	rare
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.231

Intolerance Scores

LoFtool: 0.817
RVIS EVS: -0.8
RVIS percentile EVS: 12.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.150

Gene Damage Prediction

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