Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Prokineticin-2

Das PROK2-gen kodiert eine Neuropeptid welches für den zirkadianen Rhythmus mitverantwortlich ist. Mutationen führen zu autosomal dominantem Kallmann-Syndrom 4.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

Hanchate NK et al. (2012) SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

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2.

Dodé C et al. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

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3.

Pitteloud N et al. (2007) Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

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4.

Leroy C et al. (2008) Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

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5.

Cole LW et al. (2008) Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

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6.

Jilek A et al. (2000) Murine Bv8 gene maps near a synteny breakpoint of mouse chromosome 6 and human 3p21.

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7.

Li M et al. (2001) Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle.

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8.

Cheng MY et al. (2002) Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleus.

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9.

Ng KL et al. (2005) Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling.

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10.

Shojaei F et al. (2007) Bv8 regulates myeloid-cell-dependent tumour angiogenesis.

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11.

Giannini E et al. (2009) The chemokine Bv8/prokineticin 2 is up-regulated in inflammatory granulocytes and modulates inflammatory pain.

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Update: 9. Mai 2019