NA01647
DNA from Fibroblast
Description:
PORPHYRIA, ACUTE INTERMITTENT
HYDROXYMETHYLBILANE SYNTHASE; HMBS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| hydroxymethylbilane synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.61 |
| |
| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
578T>A |
| |
| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
582_586delGCGCA |
| Remarks |
Deficient uroporphyrinogen-I synthetase; donor subject is heterozygous for two different mutations in exon 10 of the HMBS gene on a single allele: a T>A transversion at nucleotide 578 (578T>A) and a 5 bp deletion at nucleotide 582 (582_586delGCGCA) |
|
|