ALMS1 Centrosome and Basal Body Associated Protein

Alternative Names

  • ALMS1
  • KIAA0328
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OMIM Number




Uniprot ID



239,409 bases

No. of Exons


No. of isoforms


Protein Name

Alstrom syndrome protein 1

Molecular Mass

461062 Da

Amino Acid Count


Genomic Location


Gene Map Locus


The ALMS1 gene, located on chromosome 2p codes for a protein with an unknown function. Since mutations in this gene result in Alstrom syndrome - a disorder characterized by obesity, type 2 diabetes, sensorineural hearing loss cone-rod dystrophy, and cardiomyopathy - researchers have suggested that the protein may play a role in hearing, vision, insulin regulation, regulation of body weight, and normal functioning of the vital organs. Some studies point towards a lack of normal ALMS1 protein in the brain causing overeating, and a loss of normal ALMS1 in the pancreas leading to insulin resistance. These two factors together could easily lead to insulin resistance, diabetes, and obesity.

The ALMS1 protein has been shown to be ubiquitously expressed and to localize subcellularly in the centromeres. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells, leading to the proposal that ALMS1 is involved in the functioning of centrosomes or basal bodies, and for the proper formation and/or maintenance of the primary cilia.


Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001378454.1(ALMS1):c.11873-2A>TUnited Arab EmiratesNC_000002.12:g.73601193A>TLikely PathogenicLikely PathogenicAlstrom SyndromeNG_011690.1:g.220441A>T; NM_001378454.1(ALMS1):c.11873-2A>T; NP_055935.4:p.?786205527191115
NM_015120.4:c.10945G>TSaudi Arabiachr2:73572819PathogenicPathogenicLeber Congenital Amaurosis 1NG_011690.1:g.192067G>T; NM_015120.4:c.10945G>T; NP_055935.4:p.Glu3649Ter39751457639748
NM_015120.4:c.11876-3T>GLebanonNC_000002.12:g.73601192T>GPathogenicAlstrom SyndromeNG_011690.1:g.220440T>G; NM_015120.4:c.11876-3T>G; NP_055935.4:p.?
NM_015120.4:c.6064C>TOmanchr2:73452588Likely PathogenicAlstrom SyndromeNG_011690.1:g.71836C>T

Other Reports


A study by Macari et al. 1998 that involved a consanguineous family of North African origin with three affected sibs, managed to narrow down the chromosomal region linked to Alstrom syndrome to an interval of 6.1-cM from a previously established larger interval of 14.9-cM on chromosome 2p13-12.

Saudi Arabia

Aldahmesh et al. 2009 reported four novel alleles in the ALMS1 gene in consanguineous families with Alström disease. They commented on the interesting observation of allelic heterogeneity for a very rare autosomal recessive disorder in a highly inbred population.

Safieh et al. 2016 described a Saudi girl with nystagmus, photophobia, mid-facial hypoplasia, bilateral enophthalmos, and diabetes.  Mutation screening of candidate genes revealed a pathogenic mutation (c.8441C>A, p.S2814*) in ALMS1 gene.  The authors concluded that this mutation expands the genotypic spectrum of congenital retinal dystrophies in the Saudi population.

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