This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HLCSBA-20-REGO | 20 (40 μL) | 200 μL |
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| HLCSBA-20-REGR | 20 (40 μL) | 200 μL |
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| HLCSBA-20-ORGR | 20 (40 μL) | 200 μL |
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| HLCSBA-20-GOGR | 20 (40 μL) | 200 μL |
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| HLCSBA-20-GRRE | 20 (40 μL) | 200 μL |
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| HLCSBA-20-GROR | 20 (40 μL) | 200 μL |
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| HLCSBA-20-GRGO | 20 (40 μL) | 200 μL |
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| HLCSBA-20-AQOR | 20 (40 μL) | 200 μL |
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This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
Gene Symbol : HLCS
Gene Name : Holocarboxylase synthetase
Chromosome : CHR 21: 369,902,53-367,508,87
Locus : 21q22.13
Alt. Genes : LRPPRC
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