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 maintenance 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]

  • G2/M transition of mitotic cell cycle
  • Regulation of G2/M transition of mitotic cell cycle
  • Endosomal transport
  • Regulation of centriole replication
  • Regulation of stress fiber assembly

  • Alstrom syndrome
  • Leukodystrophy
  • Inherited retinal disorder
  • Cone-rod dystrophy 2
  • Fundus dystrophy

  • General Cardiomyopathy
  • Dilated Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

ALMS1 (ALMS1 centrosome and basal body associated protein) – BioGPS

Interacting Proteins for ALMS1 Gene – String

ALMS1 Localizations – Subcellular Localization Database

Gene Location

HM-VUS Prevalence

% 0.306435137895812

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

delATAG=0.000008(1/125568,TOPMED)
delATAG=0.0000(0/2188,ALFAProject)

G=0.000454(113/248648,GnomAD_exome)
G=0.000542(68/125568,TOPMED)
G=0.000424(51/120170,ExAC)
G=0.00018(14/78696,PAGE_STUDY)
G=0.00051(16/31386,GnomAD)
G=0.00073(13/17742,ALFAProject)
G=0.00073(9/12302,GO-ESP)
G=0.0002(1/4480,Estonian)
G=0.0010(4/3854,ALSPAC)
G=0.0000(0/3708,TWINSUK)

G=0.000008(1/120666,ExAC)
G=0.0002(1/5008,1000G)

T=0.000024(3/125568,TOPMED)
T=0.0000(0/2188,ALFAProject)