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Alpha-1 antitrypsin deficiency ... is the gene that encodes the protein alpha-1 ... although a heterozygote with one null mutant that abolishes expression of the gene ...
Alpha-1 antitrypsin or α 1-antitrypsin (A1AT, α 1 AT, A1A, or AAT) is a protein belonging to the serpin superfamily. It is encoded in humans by the SERPINA1 gene.A protease inhibitor, it is also known as alpha 1 –proteinase inhibitor (A1PI) or alpha 1-antiproteinase (A1AP) because it inhibits various proteases (not just trypsin). [5]
20714 Ensembl ENSG00000196136 ENSMUSG00000058207 UniProt P01011 P07759 RefSeq (mRNA) NM_001085 NM_011458 RefSeq (protein) NP_001076 NP_035588 Location (UCSC) Chr 14: 94.61 – 94.62 Mb Chr 12: 104.3 – 104.31 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alpha 1-antichymotrypsin (symbol α 1 AC, A1AC, or a1ACT) is an alpha globulin glycoprotein that is a member of the serpin ...
25-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as calcidiol 1-monooxygenase [5] or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene. [6] [7] [8]
The human HIF1A gene encodes for the alpha subunit, HIF1A of the transcription factor hypoxia-inducible factor (HIF1). [16] Its protein expression level can be measured by antibodies against HIF-1-alpha through various biological detection methods including western blot or immunostaining. [17]
Gamma-aminobutyric acid receptor subunit alpha-1 is a protein that in humans is encoded by the GABRA1 gene. [5] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as ...
alpha-1 (α 1) adrenergic receptors are G protein-coupled receptors (GPCRs) associated with the G q heterotrimeric G protein. α 1-adrenergic receptors are subdivided into three highly homologous subtypes, i.e., α 1A-, α 1B-, and α 1D-adrenergic receptor subtypes.
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 is a protein that in humans is encoded by the NDUFA1 gene. [5] [6] The NDUFA1 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. [7]