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Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordans' anomaly), [1] muscle, liver, fibroblasts, and other tissues.
57552 320024 Ensembl ENSG00000144959 ENSMUSG00000027698 UniProt Q6PIU2 Q8BLF1 RefSeq (mRNA) NM_020792 NM_001146276 NM_001146277 NM_001146278 NM_178772 RefSeq (protein) NP_001139748 NP_001139749 NP_001139750 NP_065843 NP_848887 Location (UCSC) Chr 3: 172.63 – 172.71 Mb Chr 3: 27.24 – 27.34 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Neutral cholesterol ester hydrolase 1 (NCEH ...
8140 20539 Ensembl ENSG00000103257 ENSMUSG00000040010 UniProt Q01650 Q9Z127 RefSeq (mRNA) NM_003486 NM_011404 RefSeq (protein) NP_003477 NP_035534 Location (UCSC) Chr 16: 87.83 – 87.87 Mb Chr 8: 122.61 – 122.63 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Large neutral amino acids transporter small subunit 1, also known as 4F2 light chain, or CD98 light chain is a protein that ...
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Neprilysin (/ ˌ n ɛ p r ɪ ˈ l aɪ s ɪ n /; also known as membrane metallo-endopeptidase (MME), neutral endopeptidase (NEP), cluster of differentiation 10 (CD10) and common acute lymphoblastic leukemia antigen (CALLA)) is an enzyme that in humans is encoded by the MME gene.
Valine (symbol Val or V) [4] is an α-amino acid that is used in the biosynthesis of proteins. It contains an α-amino group (which is in the protonated −NH 3 + form under biological conditions), an α-carboxylic acid group (which is in the deprotonated −COO − form under biological conditions), and a side chain isopropyl group, making it a non-polar aliphatic amino acid.
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Siderocalin (Scn), lipocalin-2, NGAL, 24p3 is a mammalian lipocalin -type protein that can prevent iron acquisition by pathogenic bacteria by binding siderophores, which are iron-binding chelators made by microorganisms. Iron serves as a key ...
74338 Ensembl ENSG00000174358 ENSMUSG00000021565 UniProt Q695T7 Q9D687 RefSeq (mRNA) NM_001003841 NM_028878 NM_001359603 RefSeq (protein) NP_001003841 NP_083154 NP_001346532 Location (UCSC) Chr 5: 1.2 – 1.23 Mb Chr 13: 73.83 – 73.85 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the ...
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