Description:
PORPHYRIA, ACUTE INTERMITTENT
HYDROXYMETHYLBILANE SYNTHASE; HMBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| hydroxymethylbilane synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.61 |
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| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
R195C; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
ARG195CYS |
| Remarks |
See GM00939 Fibroblast; deficient uroporphyrinogen-I synthetase; active AIP; Neutral Alpha-glucosidase C phenotype=1; positive family history; donor subject is heterozygous for a C>T transition at nucleotide 583 in exon 10 of the HMBS gene (583C>T) resulting in the substitution of cysteine for arginine at codon 195 [Arg195Cys (R195C)] |
| Martiniuk F, Hirschhorn R, Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele. Am J Hum Genet32:497-507 1980 |
| PubMed ID: 6994494 |
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