NP_001230675.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
pseudokinase FAM20A isoform b
NCBI Official Synonym Full Names
FAM20A, golgi associated secretory pathway pseudokinase
NCBI Protein Information
pseudokinase FAM20A
UniProt Protein Name
Pseudokinase FAM20A
NCBI Summary for FAM20A
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
UniProt Comments for FAM20A
FAM20A: Defects in FAM20A are the cause of amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS). An autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth. Belongs to the FAM20 family.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 17q24.2
Cellular Component: cell; endoplasmic reticulum; extracellular space; Golgi apparatus
Molecular Function: protein binding; protein serine/threonine kinase activator activity; protein serine/threonine kinase activity
Biological Process: biomineral formation; calcium ion homeostasis; positive regulation of protein amino acid phosphorylation
Disease: Amelogenesis Imperfecta, Type Ig
Research Articles on FAM20A
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Diseases associated with FAM20A recombinant protein
Organs/Tissues associated with FAM20A recombinant protein
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