HLCS Chromosome 21
Holocarboxylase synthetase
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What This Gene Does
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 (4)
Holocarboxylase synthetase deficiency
HLCS-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Key Variants
RS116985497
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, HLCS-related disorder, Holocarboxylase synthetase deficiency
Health Risk
RS1260631800
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS138209330
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS138844739
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS139902499
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS142524025
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS142621386
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS144238478
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS144705277
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS146030669
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS147474255
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS147495853
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
All Variants (215)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555957134 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2065031709 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2066882139 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2066903607 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2516853033 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2517424327 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2517546301 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2517578591 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2517579694 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS2517583431 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS568871363 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS751956557 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS766163167 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |
| RS767533946 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency |
| RS776431253 | Health Risk | Pathogenic/Likely pathogenic | Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency |