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HPMR

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homogentisate 1,2-dioxygenase OKDB#: 5272
 Symbols: HGD Species: human
 Synonyms: AKU, HGO  Locus: 3q13.33 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
General function
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Cellular localization Cytoplasmic
Comment
Ovarian function
Comment Transcriptomic Analysis of Ovaries from Pigs with High And Low Litter Size. Zhang X et al. (2015) Litter size is one of the most important economic traits for pig production as it is directly related to the production efficiency. Litter size is affected by interactions between multiple genes and the environment. While recent studies have identified some genes associated with prolificacy in pigs, transcriptomic studies of specific genes affecting litter size in porcine ovaries are rare. In order to identify candidate genes associated with litter size in swine, we assessed gene expression differences between the ovaries of Yorkshire pigs with extremely high and low litter sizes using the RNA-Seq method. A total of 1 243 differentially expressed genes were identified: 897 genes were upregulated and 346 genes were downregulated in high litter size ovary samples compared with low litter size ovary samples. A large number of these genes related to steroid hormone regulation in animal ovaries, including 59 Gene Ontology terms and 27 Kyoto Encyclopedia of Genes and Genomes pathways involved in steroid biosynthesis and ovarian steroidogenesis. From these differentially expressed genes, we identified a total of 11 genes using a bioinformatics screen that may be associated with high litter size in Yorkshire pigs. These results provide a list of new candidate genes for porcine litter size and prolificacy to be further investigated.The 10 most differentially expressed genes (log2FoldChange ≥4) from the total of 1 243 DEGs identified between the high and low litter size samples were: homogentisate 1,2 dioxygenase (HGD); phosphoenylpyruvate carboxykinase (PCK1), HSD17B2; early growth response 4 (EGR4), a member of the ras oncogene family (RAB33A); solute carrier protein family 6 (SLC6A20B); zinc finger protein (GLI1); U6 spliceosomal RNA (U6); solute carrier protein family 7 (SLC7A11); and spectrin alpha chain eyrythrocytic 1 (SPTA1), respectively //////////////////
Expression regulated by
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Ovarian localization
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Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Oct. 12, 2015, 2:41 p.m. by: system   email:
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last update: Oct. 12, 2015, 2:43 p.m. by: hsueh    email:



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