Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS.

[triple a syndrome]

Triple-A syndrome (MIM 231550 ; also known as Allgrove syndrome ) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH )-resistant adrenal insufficiency , achalasia of the oesophageal cardia and alacrima . Much initial molecular analysis supported that Triple-A syndrome was caused by mutations in AAAS , a WD-repeat protein gene . Here we report cloning and characterization of a novel splice variant of human AAAS , which we named AAAS -v 2 , which is located on the human chromosome 12 p 13 . The cDNA is 1703 bp , encoding a 513 -amino acid polypeptide , which contains three WD 40 domains , one less than the original which we called AAAS -v 1 (Gen Bank : NM _015665 .3 ). RT-PCR analysis in our work revealed that AAAS -v 2 and AAAS -v 1 were ubiquitously detected in human multiple tissue cDNA (MTC ) panels (CLONTECH ).

Diseases
Validation

Diseases presenting "adrenal insufficiency" symptom

adrenal incidentaloma

adrenomyeloneuropathy

aromatase deficiency

congenital adrenal hyperplasia

cushing syndrome

familial hypocalciuric hypercalcemia

neonatal adrenoleukodystrophy

scrub typhus

triple a syndrome

von hippel-lindau disease

x-linked adrenoleukodystrophy

This symptom has already been validated