Description:
CARBOXYPEPTIDASE N DEFICIENCY
CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| lysine carboxypeptidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.4.17.3; 20% activity. |
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| Gene |
CPN1 |
| Chromosomal Location |
10q24.2 |
| Allelic Variant 1 |
603103.0001; CARBOXYPEPTIDASE N DEFICIENCY |
| Identified Mutation |
1-BP INS, 385G; In the family originally reported by Mathews et al. (1980) in which carboxypeptidase N deficiency (212070) caused angioedema or chronic urticaria, as well as hay fever or asthma, Cao and Hegele (2003) found that the proband was an apparent compound heterozygote for 2 rare variants in the CPN1 gene: a frameshift mutation in exon 1 due to insertion of a single G at nucleotide 385, and a 746G-A transition in exon 3 that resulted in a gly178-to-asp substitution (G178D; 603103.0002). |
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| Gene |
CPN1 |
| Chromosomal Location |
10q24.2 |
| Allelic Variant 2 |
603103.0002; CARBOXYPEPTIDASE N DEFICIENCY |
| Identified Mutation |
GLY178ASP; In the family originally reported by Mathews et al. (1980) in which carboxypeptidase N deficiency (212070) caused angioedema or chronic urticaria, as well as hay fever or asthma, Cao and Hegele (2003) found that the proband was an apparent compound heterozygote for 2 rare variants in the CPN1 gene: a frameshift mutation in exon 1 due to insertion of a single G at nucleotide 385, and a 746G-A transition in exon 3 that resulted in a gly178-to-asp substitution (G178D; 603103.0002). |
| Remarks |
Angioedema, about 40 attacks per year; urticaria on a few occasions during childhood; long-standing ragweed hay fever and asthma; proband and a sister have approximately 20% of normal carboxypeptidase N activity in serum; donor subject is a compound heterozygote: one allele has a frameshift mutation due to a single G insertion at nucleotide 385 (codon R58) in exon 1 of the CPN1 gene which predicted an abnormal and prematurely truncated protein of 164 amino acids [385fsInsG] and the second allele has a G>A transition at nucleotide 746 in exon 3 (746G>A) that results in a missense gly178-to-asp substitution [Gly178Asp (G178D)] |
| Cao H, Hegele RA, DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. J Hum Genet48(1):20-2 2003 |
| PubMed ID: 12560874 |
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| Mathews KP, Pan PM, Gardner NJ, Hugli TE, Familial carboxypeptidase N deficiency. Ann Intern Med93:443-5 1980 |
| PubMed ID: 7437116 |
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| Mathews, Familial serum carboxypeptidase B deficiency with angioedema. J Allergy Clin Immunol63:186 (1979):443-5 1979 |
| PubMed ID: 7437116 |
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| Mathews, Familial carboxypeptidase B deficiency with angioedema. Clin Res26:715A (1978):443-5 1978 |
| PubMed ID: 7437116 |
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