AMD1

Chr 6AR

adenosylmethionine decarboxylase 1

Also known as: ADOMETDC, AMD, SAMDC

NCBI Gene: 262ENSG00000123505UniProt: P17707

This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013]

Primary Disease Associations & Inheritance

Acromesomelic dysplasia 1, Maroteaux typeMIM #602875
AR
0
Active trials
23
Pathogenic / LP
63
ClinVar variants
23
Pubs (1 yr)
2.2
Missense Z
0.28
LOEUF· LoF intolerant
Clinical Summary— AMD1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
23 Pathogenic / Likely Pathogenic· 38 VUS of 63 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.28LOEUF
pLI 0.982
Z-score 3.56
OE 0.06 (0.02–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.24Z-score
OE missense 0.54 (0.46–0.63)
100 obs / 186.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.06 (0.02–0.28)
0≤0.351.4
Missense OE0.54 (0.46–0.63)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 1 / 16.7Missense obs/exp: 100 / 186.2Syn Z: 0.54

ClinVar Variant Classifications

63 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic3
VUS38
Benign1
Conflicting1
20
Pathogenic
3
Likely Pathogenic
38
VUS
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
3
17
0
20
Likely Pathogenic
0
2
1
0
3
VUS
0
28
10
0
38
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Conflicting
—1
Total03329063

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

AMD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients