ALMS1

Chr 2

ALMS1 centrosome and basal body associated protein

Also known as: ALSS

NCBI Gene: 7840 ENSG00000116127 UniProt: Q8TCU4

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAlstrom syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Alstrom syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.87

LOEUF

LOF

Mechanism· G2P

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