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Mutations in the ALPL gene lead to varying low activity of the enzyme tissue-nonspecific alkaline phosphatase (TNSALP or TNAP) resulting in hypophosphatasia (HPP). [21] There are different clinical forms of HPP which can be inherited by an autosomal recessive trait or autosomal dominant trait, [ 18 ] the former causing more severe forms of the ...
76768 Ensembl ENSG00000163283 ENSMUSG00000079440 UniProt P05187 F8VPQ6 RefSeq (mRNA) NM_001632 NM_001081082 RefSeq (protein) NP_001623 NP_001074551 Location (UCSC) Chr 2: 232.38 – 232.38 Mb Chr 1: 87.03 – 87.03 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alkaline phosphatase, placental type also known as placental alkaline phosphatase (PLAP) is an allosteric enzyme that in ...
All clinical sub-types of hypophosphatasia have been traced to genetic mutations in the gene encoding TNSALP, which is localized on chromosome 1p36.1-34 in humans (ALPL; OMIM#171760). Approximately 388 distinct mutations have been described in the TNSALP gene. [2] "The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database".
Scientists are getting their first peek at the genes of nearly 100,000 Americans in what's considered a uniquely diverse genomic database -- part of a quest to reduce health disparities and end ...
The Leiden Open Variation Database (LOVD) is a free, flexible web-based open source database developed in the Leiden University Medical Center in the Netherlands, designed to collect and display variants in the DNA sequence. [1] [2] The focus of an LOVD is usually the combination between a gene and a genetic (heritable) disease.
dbSNP is an online resource implemented to aid biology researchers. Its goal is to act as a single database that contains all identified genetic variation, which can be used to investigate a wide variety of genetically based natural phenomena.
The Expression Atlas allows searches by gene, splice variant, protein attribute, disease, treatment or organism part (cell types/tissues). Individual genes or gene sets can be searched for. All datasets in Expression Atlas have its metadata manually curated and its data analysed through standardised analysis pipelines.
Cervical cancer gene database; Ensembl: provides automatic annotation databases for human, mouse, other vertebrate and eukaryote genomes; Ensembl Genomes: provides genome-scale data for bacteria, protists, fungi, plants and invertebrate metazoa, through a unified set of interactive and programmatic interfaces (using the Ensembl software platform)