HSD17B12 (hydroxysteroid 17-beta dehydrogenase 12)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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51144 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Hydroxysteroid 17-beta dehydrogenase 12 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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HSD17B12 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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KAR, SDR12C1 |
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Chromosome
Chromosome number
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11 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11p11.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011] |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q53GQ0 | ||||||||||
| Protein name | Very-long-chain 3-oxoacyl-CoA reductase (EC 1.1.1.330) (17-beta-hydroxysteroid dehydrogenase 12) (17-beta-HSD 12) (3-ketoacyl-CoA reductase) (KAR) (Estradiol 17-beta-dehydrogenase 12) (EC 1.1.1.62) (Short chain dehydrogenase/reductase family 12C member 1) | ||||||||||
| Protein function | Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cy | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets. {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:16113833, ECO:0000269|PubMed:16166196}. | ||||||||||
| Sequence |
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| Sequence length | 312 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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