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ALMS1

ALMS1 centrosome and basal body associated protein
2 disorders 2 untyped 2p13.1 gene with protein product
HGNC:428MonarchNCBI Gene 7840ENSG00000116127UniProt Q8TCU4OMIM 606844

Aliases: KIAA0328.

Normal function · from ai-gene-review (Q8TCU4, commit 79fe13b38970) · AI-generated, not KB evidence

ALMS1 is a large centrosome-associated protein concentrated at the proximal ends of centrioles and ciliary basal bodies. It supports centrosome cohesion and the organization of intracellular trafficking, including endosomal recycling. Loss of ALMS1 disrupts the localization of centrosome-cohesion machinery and alters transferrin recycling and actin organization in human cells. Its precise molecular activity and the relationship between its centriolar and trafficking roles remain incompletely defined. Biallelic pathogenic variants cause Alström syndrome, with progressive sensory, metabolic and other organ involvement.

ALMS1 localizes to proximal centrioles and basal bodies and supports centrosome cohesion and normal ciliary architecture. Human depletion reduces centriolar C-Nap1 and produces stunted cilia, without establishing direct C-Nap1 tethering or an autonomous molecular activity. Human fibroblast recycling defects and interactions with actin-associated machinery support a connection to endosomal recycling, while an ALMS1-containing transport scaffold remains a mechanistic model.
locations: centriole; ciliary basal body
In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Alstrom Syndrome untyped
Causative
mechanism: ALMS1 Basal Body Dysfunction
animal model: Mouse (Mus musculus)
Diabetes mellitus untyped
Causative
mechanism: Monogenic Beta-Cell Dysfunction
scoped to subtype: monogenic diabetes
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.