Humpath.com - Human pathology

Home > A. Molecular pathology > DYRK1A

DYRK1A

MIM.600855 21q22.1

Friday 25 April 2008

DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRKs) family, which is highly conserved throughout evolution.

Given its localization in both the Down syndrome critical region and in the minimal region for partial monosomy 21, the gene has been studied intensively in animals and in humans.

DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes.

Pathology

- truncating mutations of DYRK1A in microcephaly.

References

- Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM. Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly.Am J Hum Genet. 2008 Apr 9; PMID: 18405873