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Alstrom syndrome protein

Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.

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Alstrom syndrome protein 1

ALMS1: Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. Defects in ALMS1 are the cause of Alstrom syndrome (ALMS). Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 2p13

Cellular Component: centriole; centrosome; cytoplasm; cytosol; nucleus

Molecular Function: alpha-actinin binding; protein binding

Biological Process: endosome transport; G2/M transition of mitotic cell cycle; regulation of stress fiber formation

Disease: Alstrom Syndrome

Alstrom syndrome protein 1 homolog

ALMS1: Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. Defects in ALMS1 are the cause of Alstrom syndrome (ALMS). Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Cellular Component: centriole; centrosome; cytoplasm; nucleus

Molecular Function: alpha-actinin binding

Biological Process: calcium-mediated signaling; cell glucose homeostasis; cholesterol homeostasis; endosome transport; epithelial cell proliferation; establishment of planar polarity; fat cell differentiation; glucose homeostasis; inner ear receptor stereocilium organization and biogenesis; lipid metabolic process; negative regulation of apoptosis; negative regulation of multicellular organism growth; ovulation; regulation of fat cell differentiation; regulation of stress fiber formation; retinal rod cell development; sensory perception of sound; spermatid development

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