ALMS1

Chr 2AR

ALMS1 centrosome and basal body associated protein

Also known as: ALSS

NCBI Gene: 7840ENSG00000116127UniProt: Q8TCU4OMIM: 606844

The ALMS1 protein functions in microtubule organization and is required for proper formation and maintenance of primary cilia, including PCM1-dependent intracellular transport and localization of NCAPD2 to centriole proximal ends. Mutations cause Alström syndrome, a multisystem ciliopathy affecting vision, hearing, metabolism, and other organ systems. Inheritance is autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.871 OMIM phenotype
Clinical Summary— ALMS1
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Gene-Disease Validity (ClinGen)
Alstrom syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.87LOEUF
pLI 0.000
Z-score 2.89
OE 0.75 (0.64–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-2.99Z-score
OE missense 1.19 (1.15–1.23)
2437 obs / 2055.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.75 (0.64–0.87)
0≤0.351.4
Missense OE1.19 (1.15–1.23)
0≤0.61.4
Synonymous OE1.14
0≤1.21.6
LoF obs/exp: 114 / 152.5Missense obs/exp: 2437 / 2055.4Syn Z: -3.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ALMS1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants.
Secula S et al.·Stem Cell Res
2026
A case of Alström syndrome with growth hormone deficiency and dyslipidemia: a novel homozygous frameshift variant of ALMS1 c.5763del.
Goda T et al.·J Pediatr Endocrinol Metab
2026
Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension.
Jaykumar AB et al.·Acta Physiol (Oxf)
2026Open AccessFunctional
Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.
Dargar T et al.·Genes (Basel)
2026
Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.
Alvarez G et al.·Am J Med Genet A
2026
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