Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Aquaporin 1

Das AQP1-Gen kodiert ein Gen, welches die Membran für Wasser und ähnliche kleine Moleküle durchlässig macht. Dieses Protein kommt in den Membranen von Endothel, Epithel und Muskelzellen der glatten Muskulatur vor. Dieses Protein scheint auch für die Flüssigkeitsexkretion während der Peritonealdialyse verantwortlich zu sein.

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
Klinisch Untersuchungsmethoden Direkte Sequenzierung ausgewählter Gen-Abschnitte
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

baller-gerold_syndrome
RECQL4
rapadilino_syndrome
RECQL4

Referenzen:

1.

Liu M et al. (2019) Aqp-1 Gene Knockout Attenuates Hypoxic Pulmonary Hypertension of Mice.

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2.

Ma T et al. (1998) Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channels.

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3.

Moon C et al. (1995) The mouse aquaporin-1 gene.

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4.

Maurel C et al. (1993) The vacuolar membrane protein gamma-TIP creates water specific channels in Xenopus oocytes.

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5.

Fushimi K et al. (1993) Cloning and expression of apical membrane water channel of rat kidney collecting tubule.

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6.

Smith BL et al. (1993) Concurrent expression of erythroid and renal aquaporin CHIP and appearance of water channel activity in perinatal rats.

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7.

Moon C et al. (1993) The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization.

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8.

De Ca Chapelle A et al. (1975) Monosomy-7 and the Colton blood-groups.

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9.

None (1993) Aquaporin: a wee burn runs through it.

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10.

Keen TJ et al. (1995) Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526.

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11.

Agre P et al. (1994) Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia.

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12.

Smith BL et al. (1994) Human red cell aquaporin CHIP. I. Molecular characterization of ABH and Colton blood group antigens.

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13.

Preston GM et al. (1994) Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels.

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14.

None (1994) The aquaporin family of molecular water channels.

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15.

Deen PM et al. (1994) The human gene for water channel aquaporin 1 (AQP1) is localized on chromosome 7p15-->p14.

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16.

Pasquali F et al. (1982) Pathogenetic significance of "pure" monosomy 7 in myeloproliferative disorders. Analysis of 14 cases.

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17.

Cowan CA et al. (2000) EphB2 guides axons at the midline and is necessary for normal vestibular function.

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18.

Denker BM et al. (1988) Identification, purification, and partial characterization of a novel Mr 28,000 integral membrane protein from erythrocytes and renal tubules.

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19.

Lai N et al. (2014) The aquaporin 1 C-terminal tail is required for migration and growth of pulmonary arterial myocytes.

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20.

Sepramaniam S et al. (2010) MicroRNA 320a functions as a novel endogenous modulator of aquaporins 1 and 4 as well as a potential therapeutic target in cerebral ischemia.

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21.

Sorani MD et al. (2008) Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

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22.

Preston GM et al. (1991) Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: member of an ancient channel family.

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23.

Saadoun S et al. (2005) Impairment of angiogenesis and cell migration by targeted aquaporin-1 gene disruption.

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24.

Agre P et al. (2003) Aquaporin water channels: molecular mechanisms for human diseases.

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25.

Thiagarajah JR et al. (2002) Aquaporin deletion in mice reduces corneal water permeability and delays restoration of transparency after swelling.

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26.

Sui H et al. () Structural basis of water-specific transport through the AQP1 water channel.

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27.

King LS et al. (2002) Decreased pulmonary vascular permeability in aquaporin-1-null humans.

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28.

de Groot BL et al. (2001) Water permeation across biological membranes: mechanism and dynamics of aquaporin-1 and GlpF.

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29.

King LS et al. (2001) Defective urinary concentrating ability due to a complete deficiency of aquaporin-1.

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30.

Yang B et al. (2001) Erythrocyte water permeability and renal function in double knockout mice lacking aquaporin-1 and aquaporin-3.

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31.

Murata K et al. (2000) Structural determinants of water permeation through aquaporin-1.

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Update: 23. Juni 2025
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