MIOX

protein-coding

myo-inositol oxygenase

Gene summary

Enables ferric iron binding activity and inositol oxygenase activity. Involved in inositol catabolic process. Predicted to be located in cytoplasm and inclusion body. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ALDRL6

MANE transcript

NM_017584.6

Inheritance

—

ClinVar variants

U:61B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.28

Max pathogenic AF

—

Genomic locus

chr22:50,486,784-50,490,648

External References & Databases

Ensembl (ENSG00000100253)

Transcript & Mutation Effects

hg38 • Region Span ~3.9 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 MIOX variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 61

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017584.6. 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				1 clinvar		1
missense			60 clinvar	1 clinvar	1 clinvar	62
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	2	1	64

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017584.6	RefSeq	NP_060054.4	10	MANE Select
ENST00000216075.11	Ensembl	ENSP00000216075.6	10	MANE Select
ENST00000395732.7	Ensembl	ENSP00000379081.3	10	Standard
ENST00000395732.8	Ensembl	ENSP00000379081.3	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Inositol phosphate metabolism - Homo sapiens (human)
Ascorbate and aldarate metabolism - Homo sapiens (human)
Inositol Metabolism
Inositol phosphate metabolism
Metabolism

Biological Process

inositol catabolic process
inositol phosphate metabolic process
oxidation-reduction process

Molecular Function

aldo-keto reductase (NADP) activity
ferric iron binding
oxidoreductase activity, acting on NAD(P)H
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen
inositol oxygenase activity

Cellular Component

cytoplasm
cytosol
inclusion body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000216075
Coding exons: 10
Length: 3865
Individuals with no LoFs: 125559
Homozygous LoFs: 0
Heterozygous LoFs: 156
Defined: 125715
p: 0.000621

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.491	203	184	1.10	0.0000117	1885
Missense (PolyPhen)		98	77.688	1.2615		792
Synonymous	-2.10	102	78.4	1.30	0.00000550	524
Loss of Function	-1.11	23	17.9	1.28	9.19e-7	185

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0010	0.00098	notable
Latino/Admixed American	0.00033	0.00032	rare
Ashkenazi Jewish	0.0047	0.0044	notable
East Asian	0.00054	0.00054	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00032	0.00031	rare
South Asian	0.0011	0.0011	notable
Other	0.00053	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.128

Intolerance Scores

LoFtool: 0.205
RVIS EVS: -0.2
RVIS percentile EVS: 39.11

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.935

Gene Damage Prediction

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