ALMS1

Alstrom syndrome 1
Identifiers
Symbol	ALMS1
Entrez	7840
HUGO	428
OMIM	606844
RefSeq	NM_015120
UniProt	Q8TCU4
Other data
Locus	Chr. 2 p13.1

Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene.

The gene is located on the short arm of chromosome 2 (2p13.2) on the plus (Watson) strand. It is 224,161 bases in length organised into 23 exons. The encoded protein has 4,167 amino acids and molecular weight of 460,937 Da. Three isofoms are known. The protein itself has a large tandem-repeat domain comprising 34 imperfect repetitions of 47 amino acids. Mutations associated with disease are usually found in exons 8, 10 and 16.

The gene is expressed in fetal tissues including the aorta, brain, eye, kidney, liver, lung, olfactory bulb, pancreas, skeletal muscle, spleen and testis. The protein is found in the cytoplasm, centrosome, cell projections and cilium basal body. During mitosis it localizes to both spindle poles.

Knockdown of Alms1 by short interfering RNA in mouse inner medullary collecting duct cells caused defective ciliogenesis. Cilia were stunted and treated cells lacked the ability to increase calcium influx in response to mechanical stimuli.

Mutations in the ALMS1 gene have been found to be causative for Alström syndrome with a total of 81 disease-causing mutations.

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