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- Dicarboxylic_aminoaciduria abstract "Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) which is an autosomal recessive disorder of urinary glutamate and aspartate due to genetic errors related to transport of these amino acids. Mutations resulting in a lack of expression of the SLC1A1 gene, a member of the solute carrier family, are found to cause development of dicarboxylic aminoaciduria in humans. SLC1A1 encodes for EAAT3 which is found in the neurons, intestine, kidney, lung, and heart. EAAT3 is part of a family of high affinity glutamate transporters which transport both glutamate and aspartate across the plasma membrane.".
- Dicarboxylic_aminoaciduria diseasesdb "14901".
- Dicarboxylic_aminoaciduria icd10 "E72.0".
- Dicarboxylic_aminoaciduria meshId "C536171".
- Dicarboxylic_aminoaciduria omim "222730".
- Dicarboxylic_aminoaciduria thumbnail PBB_GE_SLC1A1_213664_at_tn.png?width=300.
- Dicarboxylic_aminoaciduria wikiPageID "41118976".
- Dicarboxylic_aminoaciduria wikiPageRevisionID "595148867".
- Dicarboxylic_aminoaciduria altsymbols "; EAAC1; EAAT3".
- Dicarboxylic_aminoaciduria chembl "2721".
- Dicarboxylic_aminoaciduria diseasesdb "14901".
- Dicarboxylic_aminoaciduria geneatlasImage "PBB_GE_SLC1A1_206396_at_tn.png".
- Dicarboxylic_aminoaciduria geneatlasImage "PBB_GE_SLC1A1_213664_at_tn.png".
- Dicarboxylic_aminoaciduria hgncid "10939".
- Dicarboxylic_aminoaciduria homologene "20881".
- Dicarboxylic_aminoaciduria hsEnsembl "ENSG00000106688".
- Dicarboxylic_aminoaciduria hsEntrezgene "6505".
- Dicarboxylic_aminoaciduria hsGenlocChr "9".
- Dicarboxylic_aminoaciduria hsGenlocDb "hg19".
- Dicarboxylic_aminoaciduria hsGenlocEnd "4587469".
- Dicarboxylic_aminoaciduria hsGenlocStart "4490444".
- Dicarboxylic_aminoaciduria hsRefseqmrna "NM_004170".
- Dicarboxylic_aminoaciduria hsRefseqprotein "NP_004161".
- Dicarboxylic_aminoaciduria hsUniprot "P43005".
- Dicarboxylic_aminoaciduria icd "E72.0".
- Dicarboxylic_aminoaciduria meshid "536171.0".
- Dicarboxylic_aminoaciduria mgiid "105083".
- Dicarboxylic_aminoaciduria mmEnsembl "ENSMUSG00000024935".
- Dicarboxylic_aminoaciduria mmEntrezgene "20510".
- Dicarboxylic_aminoaciduria mmGenlocChr "19".
- Dicarboxylic_aminoaciduria mmGenlocDb "mm9".
- Dicarboxylic_aminoaciduria mmGenlocEnd "28913960".
- Dicarboxylic_aminoaciduria mmGenlocStart "28835049".
- Dicarboxylic_aminoaciduria mmRefseqmrna "NM_009199".
- Dicarboxylic_aminoaciduria mmRefseqprotein "NP_033225".
- Dicarboxylic_aminoaciduria mmUniprot "P51906".
- Dicarboxylic_aminoaciduria name "Dicarboxylic aminoaciduria".
- Dicarboxylic_aminoaciduria name "Solute carrier family 1 , member 1".
- Dicarboxylic_aminoaciduria omim "133550".
- Dicarboxylic_aminoaciduria omim "222730".
- Dicarboxylic_aminoaciduria orpha "ORPHA2195".
- Dicarboxylic_aminoaciduria path "PBB/6505".
- Dicarboxylic_aminoaciduria symbol "SLC1A1".
- Dicarboxylic_aminoaciduria subject Category:Amino_acid_metabolism_disorders.
- Dicarboxylic_aminoaciduria subject Category:Autosomal_recessive_disorders.
- Dicarboxylic_aminoaciduria type Disease.
- Dicarboxylic_aminoaciduria type Situation.
- Dicarboxylic_aminoaciduria comment "Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) which is an autosomal recessive disorder of urinary glutamate and aspartate due to genetic errors related to transport of these amino acids. Mutations resulting in a lack of expression of the SLC1A1 gene, a member of the solute carrier family, are found to cause development of dicarboxylic aminoaciduria in humans. SLC1A1 encodes for EAAT3 which is found in the neurons, intestine, kidney, lung, and heart.".
- Dicarboxylic_aminoaciduria label "Dicarboxylic aminoaciduria".
- Dicarboxylic_aminoaciduria sameAs m.02kb_ql.
- Dicarboxylic_aminoaciduria sameAs Q16252204.
- Dicarboxylic_aminoaciduria sameAs Q16252204.
- Dicarboxylic_aminoaciduria wasDerivedFrom Dicarboxylic_aminoaciduria?oldid=595148867.
- Dicarboxylic_aminoaciduria depiction PBB_GE_SLC1A1_213664_at_tn.png.
- Dicarboxylic_aminoaciduria isPrimaryTopicOf Dicarboxylic_aminoaciduria.
- Dicarboxylic_aminoaciduria name "Dicarboxylic aminoaciduria".
