IAH1

protein-coding

isoamyl acetate hydrolyzing esterase 1 (putative)

Gene summary

Enables identical protein binding activity. Predicted to be involved in lipid catabolic process. Predicted to act upstream of or within gene expression. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001039613.3

Inheritance

—

ClinVar variants

U:43

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr2:9,473,658-9,496,543

External References & Databases

Ensembl (ENSG00000134330)

Transcript & Mutation Effects

hg38 • Region Span ~22.9 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 IAH1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 41

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039613.3. 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						0
missense			41 clinvar			41
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	43	0	0	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039613.3	RefSeq	NP_001034702.1	6	MANE Select
ENST00000497473.6	Ensembl	ENSP00000417580.1	6	MANE Select
NM_001320858.2	RefSeq	NP_001307787.1	6	Standard
NM_001320859.2	RefSeq	NP_001307788.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

lipid catabolic process

Molecular Function

hydrolase activity, acting on ester bonds

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000497473
Coding exons: 6
Length: 22886
Individuals with no LoFs: 124759
Homozygous LoFs: 0
Heterozygous LoFs: 38
Defined: 124797
p: 0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.292	124	134	0.929	0.00000699	1596
Missense (PolyPhen)		38	45.123	0.84215		551
Synonymous	0.278	51	53.6	0.952	0.00000298	486
Loss of Function	1.79	6	13.0	0.463	6.18e-7	143

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00065	0.00065	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000098	0.000097	rare
South Asian	0.00027	0.00026	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable lipase. {ECO:0000250}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.666
RVIS EVS: 0.17
RVIS percentile EVS: 65.56

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.438

Gene Damage Prediction

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