Alport Syndrome, Mental Retardation, Midface Hypoplasia and Elliptocytosis Chromosomal Region Gene 1 (AMMECR1) ELISA Kits

The exact function of AMMECR1 is not known, however, submicroscopic deletion of the X chromosome including AMMECR1, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Zusätzlich bieten wir Ihnen AMMECR1 Antikörper (28) und AMMECR1 Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
AMMECR1 9949 Q9Y4X0
AMMECR1 56068 Q9JHT5
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Katalog Nr. Reaktivität Sensitivität Bereich Bilder Menge Anbieter Lieferzeit Preis Details
Human
  96 Tests Anmelden zum Anzeigen 15 bis 18 Tage
$875.60
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Maus
  96 Tests Anmelden zum Anzeigen 15 bis 18 Tage
$875.60
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Weitere ELISA Kits für AMMECR1 Interaktionspartner

Human Alport Syndrome, Mental Retardation, Midface Hypoplasia and Elliptocytosis Chromosomal Region Gene 1 (AMMECR1) Interaktionspartner

  1. We conclude that AMMECR1 is a critical gene in the pathogenesis of Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME), causing midface hypoplasia and elliptocytosis and contributing to early speech and language delay, infantile hypotonia and hearing loss

  2. Study provides further evidence that mutated AMMECR1 gene is responsible for this clinically recognizable X-linked condition, Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) with variable expressivity.

AMMECR1 Antigen-Profil

Beschreibung des Gens

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Genbezeichner und Symbole assoziert mit AMMECR1

  • Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 L homeolog (ammecr1.L) Antikörper
  • Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1) Antikörper
  • Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (Ammecr1) Antikörper
  • Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (ammecr1) Antikörper
  • 6230420G18Rik Antikörper
  • Ammecr1 Antikörper
  • AMMERC1 Antikörper
  • MGC84095 Antikörper

Bezeichner auf Proteinebene für AMMECR1

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 , Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 , AMME syndrome candidate gene 1 protein homolog , AMME syndrome candidate gene 1 protein , Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 homolog

GENE ID SPEZIES
444611 Xenopus laevis
473731 Pan troglodytes
492063 Canis lupus familiaris
705858 Macaca mulatta
100115756 Nasonia vitripennis
100144747 Xenopus (Silurana) tropicalis
100190805 Pongo abelii
9949 Homo sapiens
56068 Mus musculus
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