ALDH1B1

protein-coding

aldehyde dehydrogenase 1 family member B1, the group of Aldehyde dehydrogenases

Gene summary

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]

Previous symbols:

ALDH5

MANE transcript

NM_000692.5

Inheritance

ClinVar variants

P:1U:65B:9

Top phenotype

Complex neurodevelopmental disorder

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr9:38,392,702-38,398,661

External References & Databases

Ensembl (ENSG00000137124)

Transcript & Mutation Effects

hg38 • Region Span ~6.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

complex neurodevelopmental disorderLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0100038

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ALDH1B1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 61

not providedTotal: 16

Complex neurodevelopmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000692.5. 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	4
missense		1 clinvar	65 clinvar	2 clinvar	1 clinvar	69
nonsense						0
start loss						0
frameshift				2 clinvar		2
splice donor/acceptor (+/-2bp)						0
Total	0	1	65	4	5	75

Highest pathogenic variant AF is 0.000037177026

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000692.5	RefSeq	NP_000683.3	1	MANE Select
ENST00000377698.4	Ensembl	ENSP00000366927.3	1	MANE Select
ENST00000635162.1	Ensembl	ENSP00000489053.1	1	Standard
ENST00000897464.1	Ensembl	ENSP00000567523.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tryptophan metabolism - Homo sapiens (human)
Pyruvate metabolism - Homo sapiens (human)
Arginine and proline metabolism - Homo sapiens (human)
Glycolysis / Gluconeogenesis - Homo sapiens (human)
Glycerolipid metabolism - Homo sapiens (human)

Biological Process

carbohydrate metabolic process
ethanol catabolic process
ethanol oxidation

Molecular Function

aldehyde dehydrogenase (NAD) activity
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity
NAD binding

Cellular Component

nucleoplasm
mitochondrion
mitochondrial matrix
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377698
Coding exons: 1
Length: 5998
Individuals with no LoFs: 122182
Homozygous LoFs: 70
Heterozygous LoFs: 3496
Defined: 125748
p: 0.0143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.227	333	322	1.04	0.0000208	3366
Missense (PolyPhen)		106	105.44	1.0053		1235
Synonymous	0.494	133	140	0.947	0.00000925	1092
Loss of Function	0.781	10	13.0	0.767	7.25e-7	148

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0082	0.0082	notable
Latino/Admixed American	0.065	0.065	notable
Ashkenazi Jewish	0.014	0.014	notable
East Asian	0.0011	0.0011	notable
Finnish	0.0013	0.0013	notable
European (Non-Finnish)	0.0079	0.0079	notable
South Asian	0.0030	0.0029	notable
Other	0.017	0.017	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.;

Recessive Scores

pRec: 0.453

Intolerance Scores

LoFtool: 0.574
RVIS EVS: -0.04
RVIS percentile EVS: 50.45

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.642

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High