Gene
ALMS1
ALMS1 centrosome and basal body associated protein
- HGNC 428(opens in a new tab)
- Ensembl gene ENSG00000116127(opens in a new tab)
- NCBI Gene 7840(opens in a new tab)
Summary
- Cytogenetic location
- 2p13.1
- Coordinates
- Chromosome 2: 73,385,836–73,609,916 (GRCh38)
- Exons
- 23 exons across 224.1 kb
- Protein
- 4,168 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KIAA0328
- MANE Select transcript
- ENST00000613296.6NM_001378454.1
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read ALMS1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Bardet-Biedl and Alström Syndromes
- Alström syndromeAutosomal recessive
A recessive ciliopathy caused by variants in ALMS1 that causes childhood retinal dystrophy, hearing loss, obesity, insulin resistance and type 2 diabetes, and heart and kidney disease.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis allows early heart, hearing, eye, kidney and diabetes monitoring.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ALMS1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 12.8 kb of the gene's 224.1 kb; 12,507 of those bases code for the protein.
How a genome test reads ALMS1
800
positions in ALMS1 where ClinVar classes a change as pathogenic or likely pathogenic
74 of them (9.3%) fall in regions short reads find hard.
- Low mappability (14 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (74 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 224.1 kb of ALMS1, introns included, not only the 12.8 kb of exons.
Traits linked to ALMS1
The Human Phenotype Ontology lists these as features of the rare conditions ALMS1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Visual impairment
- Abnormal optic disc morphology
- Abnormal retinal pigmentation
- Blindness
- Breakdown of light-sensitive cells in back of eye
- Cone/cone-rod dystrophy
Show 38 more traits
- Marked vision impairment
- Visual loss
- Abnormal color vision
- Abnormal electroretinogram
- Abnormal full-field electroretinogram
- Abnormal macular morphology
- Abnormal pupillary light reflex
- Bulging cornea
- Clouding of the lens of the eye
- Decreased clarity of vision
- Difficulties with night vision
- Farsightedness
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Retina degeneration
- Retinal pigment epithelial atrophy
- Retinal pigment epithelial mottling
- Slow pupillary light response
- Spicular pigmentation of the retina
- Undetectable electroretinogram
- Abnormal corneal endothelium morphology
- Blurred vision
- Chorioretinal atrophy
- Close sighted
- Deeply set eye
- Drusen
- Granular macular appearance
- Macular pseudocoloboma
- Outward facing eye ball
- Partial loss of field of vision
- Posterior subcapsular cataract
- Posterior synechiae of the anterior chamber
- Retinal detachment
- Rhegmatogenous retinal detachment
- Limited peripheral vision
- Pigmentary retinopathy
- Subcapsular cataract
Abnormality of the nervous system
- Abnormality of neuronal migration
- Aplasia/Hypoplasia of the cerebellar vermis
- Epilepsy
- Eye poking
- Increased appetite
- Paralysis or weakness of one side of body
- Receptive language delay
- Somatic sensory dysfunction
Show 19 more traits
- Specific learning disability
- Autism spectrum disorder
- Balance impairment
- Delayed ability to sit
- Delayed ability to stand
- Delayed ability to walk
- Delayed social development
- Global developmental delay
- Incoordination
- Intellectual disability
- Mild global developmental delay
- Motor delay
- Poor fine motor coordination
- Unsteady walk
- Ataxia
- Cognitive impairment
- Difficulty sleeping
- Hepatic encephalopathy
- Typical absence seizure
Abnormality of the genitourinary system
- Chronic kidney disease
- Functional abnormality of the bladder
- Decreased fertility in males
- Decreased testicular size
- Detrusor sphincter dyssynergia
- Dull burning sensation with urination
- Frequent urinary tract infections
- Glomerulonephritis
Show 14 more traits
Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
- Puberty and gonadal disorders
- Decreased circulating T4 concentration
- Decreased response to growth hormone stimulation test
- Elevated circulating thyroid-stimulating hormone concentration
- Increased circulating androgen concentration
- Primary hypothyroidism
- Delayed start of first period
Abnormality of the digestive system
- Abnormal liver physiology
- Acid reflux
- Enlarged liver
- Enlarged vein in esophagus
- Hepatic fibrosis
- Liver failure
- Liver inflammation
- Scar tissue replaces healthy tissue in the liver
Show 2 more traits
Abnormality of head or neck
- Encephalocele
- Recurrent colds
- Recurrent sinus disease
- Thick inner surface of the frontal bone
- Abnormality of dental color
- Decreased number of teeth
- Inflamed gums
- Round face
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ALMS1 gene: ALMS1 centrosome and basal body associated protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/alms1
Dante Labs. ALMS1 gene: ALMS1 centrosome and basal body associated protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alms1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks