ALMS1 Centrosome and Basal Body Associated Protein

Alternative Names

ALMS1
KIAA0328

Length

239,409 bases

No. of Exons

No. of isoforms

Protein Name

Alstrom syndrome protein 1

Molecular Mass

461062 Da

Amino Acid Count

4168

Genomic Location

chr2:73,385,758-73,625,166

Gene Map Locus

2p13.1

Description

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001378454.1:c.11873-2A>T	Saudi Arabia; United A...	NC_000002.12:g.73601193A>T	Likely Pathogenic	Likely Pathogenic, Pathogenic	Alstrom Syndrome; Retinitis Pigmentosa	NG_011690.1:g.220441A>T; NM_001378454.1:c.11873-2A>T; NP_055935.4:p.?	786205527	191115
NM_001378454.1:c.1671del	Saudi Arabia	NC_000002.12:g.73448198del	Likely Pathogenic	Likely Pathogenic	Alstrom Syndrome	NG_011690.1:g.67446del; NM_001378454.1:c.1671del; NP_001365383.1:p.Pro558LeufsTer37	786205633	191303
NM_001378454.1:c.2726C>G	Saudi Arabia	NC_000002.12:g.73449253C>G	Likely Pathogenic, Pathogenic	Pathogenic	Alstrom Syndrome	NG_011690.1:g.68501C>G; NM_001378454.1:c.2726C>G; NP_001365383.1:p.Ser909Ter	746640196	191113
NM_001378454.1:c.764G>A	Saudi Arabia	NC_000002.12:g.73422974G>A	Likely Pathogenic	Likely Pathogenic	Cone-Rod Dystrophy 2	NG_011690.1:g.42220G>A; NM_001378454.1:c.764G>A; NP_001365383.1:p.Arg255Lys	786205526	191112
NM_001378454.1:c.846dup	Saudi Arabia	NC_000002.12:g.73424511dup		Likely Pathogenic	Alstrom Syndrome	NG_011690.1:g.43757dup; NM_001378454.1:c.846dup; NP_001365383.1:p.Glu283ArgfsTer12
NM_015120.4:c.10945G>T	Saudi Arabia	chr2:73572819	Pathogenic	Pathogenic	Leber Congenital Amaurosis 1	NG_011690.1:g.192067G>T; NM_015120.4:c.10945G>T; NP_055935.4:p.Glu3649Ter	397514576	39748
NM_015120.4:c.11876-3T>G	Lebanon	NC_000002.12:g.73601192T>G		Pathogenic	Alstrom Syndrome	NG_011690.1:g.220440T>G; NM_015120.4:c.11876-3T>G; NP_055935.4:p.?
NM_015120.4:c.6064C>T	Oman	chr2:73452588		Likely Pathogenic	Alstrom Syndrome	NG_011690.1:g.71836C>T

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Other Reports

Algeria

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.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALMS1 https://medlineplus.gov/genetics/gene/alms1/

Contributors

Asha Deepthi: 10.05.2021
Pratibha Nair: 18.05.2020
Ameera Balobaid: 03.11.2016
Nada Assaf: 16.06.2016
Ghazi O. Tadmouri: 27.01.2013
Abdul R Hamzeh: 07.01.2013
Pratibha Nair: 07.01.2013

Edit History

Asha Deepthi: 10.05.2021
Sayeeda Hana: 20.07.2020
Pratibha Nair: 18.05.2020
Sami Bizzari: 04.01.2017
Nada Assaf: 28.01.2013
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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