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HLCS holocarboxylase synthetase

Gene ID: 3141, updated on 25-Jan-2022
Gene type: protein coding
Also known as: HCS

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Holocarboxylase synthetase deficiency
MedGen: C0268581OMIM: 253270GeneReviews: Not available
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Genomic context

Location:
21q22.13
Sequence:
Chromosome: 21; NC_000021.9 (36748625..36990255, complement)
Total number of exons:
20

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