![]() ![]() S19A1_HUMAN,P41440Ī mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).Īutosomal recessive Autosomal recessive form Autosomal recessive predisposition biallelic_autosomalĪbnormal circulating proteinogenic amino acid concentrationĪn elevated level of a proteinogenic amino acid in the blood circulation. 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity (PubMed: 22554803). ![]() Also acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP, thus playing a role in triggering larger immune responses (PubMed: 31511694, 31126740). Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate (PubMed: 10787414, 14609557, 22554803). Mechanistically, acts as a secondary active transporter, which exports intracellular organic anions down their concentration gradients to facilitate the uptake of its substrates (PubMed: 22554803, 31511694, 31126740). 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity (PubMed: 22554803).Īntiporter that mediates the import of reduced folates or a subset of cyclic dinucleotides, driven by the export of organic anions (PubMed: 7826387, 9041240, 10787414, 15337749, 16115875, 22554803, 31511694, 31126740, 32276275). ![]() ![]()
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