NP_114095.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
128,785 Da
NCBI Official Full Name
enamelin
NCBI Official Synonym Full Names
enamelin
NCBI Protein Information
enamelin; amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
UniProt Protein Name
Enamelin
UniProt Entry Name
ENAM_HUMAN
NCBI Summary for ENAM
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]
UniProt Comments for ENAM
enamelin: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation. Defects in ENAM are the cause of amelogenesis imperfecta type 1B (AI1B). AI1B is an autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). Defects in ENAM are the cause of amelogenesis imperfecta type 1C (AI1C); also known as amelogenesis imperfecta hypoplastic with or without openbite malocclusion. AI1C is an autosomal recessive defect of dental enamel formation. Teeth show hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 4q13.3
Cellular Component: proteinaceous extracellular matrix
Biological Process: biomineral formation
Disease: Amelogenesis Imperfecta, Type Ic; Amelogenesis Imperfecta, Type Ib
Research Articles on ENAM
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Products associated with ENAM elisa kit
Diseases associated with ENAM elisa kit
Organs/Tissues associated with ENAM elisa kit
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