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Article

Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.

Gene - 15 Jul 2010

Purvis Tracey L, Hearn Tom, Spalluto Cosma, Knorz Victoria J, Hanley Karen Piper, Sanchez-Elsner Tilman, Hanley Neil A, Wilson David I

Abstract excerpt

Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy. ALMS1 encodes a centrosomal protein implicated in the assembly and maintenance of primary cilia. Expression of ALMS1 varies between tissues and recent data suggest that its transcription is modulated during adipogenesis and growth arrest. However the ALMS1 promoter...

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Source

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Identifiers

PMID: 20381594
DOI: 10.1016/j.gene.2010.03.015
PMCID: PMC2913254

Genes

ALMS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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