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208211 Ensembl ENSG00000033011 ENSMUSG00000039427 UniProt Q9BT22 Q921Q3 RefSeq (mRNA) NM_019109 NM_001330504 NM_145362 RefSeq (protein) NP_001317433 NP_061982 NP_663337 Location (UCSC) Chr 16: 5.03 – 5.09 Mb Chr 16: 5.05 – 5.06 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure ...
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 .
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
Deficiency in GlcNAc-1-P transferase causes DPAGT1-CDG (CDG-Ij) [14] Loss of the first mannosyltransferase causes ALG1-CDG (CDG-Ik) [15] Loss of the second mannosyltransferase (adds Man II and III) causes ALG2-CDG (CDG-Ii). [16] Loss of the third mannosyltransferase (adds Man IV and V) causes ALG11-CDG (CDG-Ip) [17]
ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. [1]
Substances with a molar mass around 1000g/mol (e.g. thyroxine) are almost vertically aligned in the mass and molar images. Adrenocorticotropic hormone, on the other hand, with a molar mass of 4540, [ 13 ] is 0.7 decades to the right in the mass image.
An analysis of data from more than 8,000 adults in the U.S. revealed that 14% had low iron blood levels, a condition known as absolute iron deficiency, while 15% had the right iron levels but ...
Primary aldosteronism (PA), also known as primary hyperaldosteronism, refers to the excess production of the hormone aldosterone from the adrenal glands, resulting in low renin levels and high blood pressure. [1] This abnormality is a paraneoplastic syndrome (i.e. caused by hyperplasia or tumors).