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Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1] Onset of lung problems is typically between 20 and 50 years of age. [ 1 ] This may result in shortness of breath , wheezing , or an increased risk of lung infections .
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 ...
Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein [5] [6] that in humans is encoded by the AFP gene. [ 7 ] [ 8 ] The AFP gene is located on the q arm of chromosome 4 (4q13.3). [ 9 ]
Hypoxia-inducible factor 1-alpha, also known as HIF-1-alpha, is a subunit of a heterodimeric transcription factor hypoxia-inducible factor 1 that is encoded by the HIF1A gene. [ 5 ] [ 6 ] [ 7 ] The Nobel Prize in Physiology or Medicine 2019 was awarded for the discovery of HIF.
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.
6772 20846 Ensembl ENSG00000115415 ENSMUSG00000026104 UniProt P42224 P42225 RefSeq (mRNA) NM_007315 NM_139266 NM_001205313 NM_001205314 NM_009283 NM_001357627 RefSeq (protein) NP_009330 NP_644671 n/a Location (UCSC) Chr 2: 190.91 – 191.02 Mb Chr 1: 52.16 – 52.2 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Signal transducer and activator of transcription 1 (STAT1) is a ...
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 ...
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