ACCS

protein-coding

1-aminocyclopropane-1-carboxylate synthase homolog (inactive)

Gene summary

Enables identical protein binding activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032592.4

Inheritance

—

ClinVar variants

U:82B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.54

Max pathogenic AF

—

Genomic locus

chr11:44,065,925-44,084,237

External References & Databases

Ensembl (ENSG00000110455)

Transcript & Mutation Effects

hg38 • Region Span ~18.3 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 ACCS variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 82

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032592.4. 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				1 clinvar	2 clinvar	3
missense			80 clinvar	3 clinvar	2 clinvar	85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	82	4	4	90

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032592.4	RefSeq	NP_115981.1	14	MANE Select
ENST00000263776.9	Ensembl	ENSP00000263776.8	14	MANE Select
NM_001127219.2	RefSeq	NP_001120691.1	14	Standard
ENST00000524990.5	Ensembl	ENSP00000434156.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

1-aminocyclopropane-1-carboxylate biosynthetic process

Molecular Function

protein binding
1-aminocyclopropane-1-carboxylate synthase activity
pyridoxal phosphate binding
identical protein binding
protein homodimerization activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263776
Coding exons: 14
Length: 18298
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 40
Defined: 125748
p: 0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.226	284	295	0.963	0.0000169	3261
Missense (PolyPhen)		102	112.04	0.91039		1275
Synonymous	0.369	108	113	0.956	0.00000591	982
Loss of Function	2.19	14	26.1	0.536	0.00000111	313

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00025	0.00024	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Does not catalyze the synthesis of 1-aminocyclopropane- 1-carboxylate but is capable of catalyzing the deamination of L- vinylglycine. {ECO:0000269|PubMed:11470512}.;

Recessive Scores

pRec: 0.158

Intolerance Scores

LoFtool: 0.326
RVIS EVS: 0.29
RVIS percentile EVS: 71.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.819

Gene Damage Prediction

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