ADH1C

protein-coding

alcohol dehydrogenase 1C (class I), gamma polypeptide, the group of Alcohol dehydrogenases

Gene summary

This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]

Previous symbols:

ADH3

MANE transcript

NM_000669.5

Inheritance

—

ClinVar variants

U:42B:14

Top phenotype

Alcohol dependence

Max pathogenic AF

—

Genomic locus

chr4:99,336,497-99,352,746

External References & Databases

Ensembl (ENSG00000248144)

Transcript & Mutation Effects

hg38 • Region Span ~16.2 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 ADH1C variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 10

Alcohol dependenceTotal: 1

Parkinson disease, late-onsetTotal: 1

Parkinson disease, mitochondrialTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000669.5. 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			1 clinvar	6 clinvar	1 clinvar	8
missense			40 clinvar	5 clinvar	2 clinvar	47
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	11	3	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000669.5	RefSeq	NP_000660.1	9	MANE Select
ENST00000515683.6	Ensembl	ENSP00000426083.1	9	MANE Select
ENST00000510055.5	Ensembl	ENSP00000478439.1	4	Standard
ENST00000511397.3	Ensembl	ENSP00000478545.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Retinol metabolism - Homo sapiens (human)
Glycolysis / Gluconeogenesis - Homo sapiens (human)
Fatty acid degradation - Homo sapiens (human)
Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)
Drug metabolism - cytochrome P450 - Homo sapiens (human)

Biological Process

ethanol oxidation
retinol metabolic process
retinoic acid metabolic process

Molecular Function

alcohol dehydrogenase (NAD) activity
alcohol dehydrogenase activity, zinc-dependent
retinol dehydrogenase activity
zinc ion binding

Cellular Component

nucleoplasm
cytosol
plasma membrane

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): N