2024年12月10日 · This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4.

2024年12月24日 · AMTN (Amelotin) is a Protein Coding gene. Diseases associated with AMTN include Amelogenesis Imperfecta, Type Iiib and Amelogenesis Imperfecta, Type Iiia. Among its related pathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Metabolism of proteins.

Ameloblastin (abbreviated AMBN and also known as sheathlin or amelin) is an enamel matrix protein that in humans is encoded by the AMBN gene. [5] Ameloblastin is a specific protein found in tooth enamel.

2024年8月1日 · Ameloblastin (Ambn) is multifunctional in its facilitation of enamel formation. Human amelogenesis imperfecta cases and animal models emphasize importance of Ambn. Its functions include ameloblast cell signaling, polarization, and matrix adhesion. A conserved amphipathic helix motif mediates direct Ambn-cell membrane interaction.

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel m atrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4.

2025年2月8日 · Ameloblastin is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia. Single nucleotide polymorphisms in the AMELX and AMBN genes may be genetic variants that contribute to developmental defects of enamel in primary dentition of Polish children.

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4.

2000年10月3日 · The human AMBN gene consists of 13 exons and contains a novel 78 bp (26 amino acid) insert representing two short exons produced by internal sequence duplication. There appears to be only a single AMBN locus in humans. The AMBN transcripts are expressed in human ameloblastoma tumors and contain some tumor-specific mutations.

Chromosome 4: 71,457,973-71,473,005 forward strand. This gene has 2 transcripts (splice variants) and is associated with 1 phenotype. A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt.

2018年9月3日 · Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid ...