Search
aladin (adracalin, AAAS, ADRACALA, GL003)
Function:
1) role in the normal development of the peripheral & central nervous system
Structure:
- contains 4 WD repeats
Expression:
- widely expressed
- abundantly expressed in cerebellum, corpus callosum, adrenal gland, pituary gland, gatsrointestinal structures & fetal lung
Pathology:
- defects in AAAS are the cause of achalasia-addisonianism-alacrima syndrome
General
WD repeat protein family
Properties
SIZE: MW = 60 kD
entity length = 546 aa
MOTIF: WD repeat {149-188}
WD repeat {191-230}
WD repeat {243-282}
WD repeat {285-324}
microbody-targeting signal {544-546}
Database Correlations
OMIM correlations
MORBIDMAP 605378
UniProt Q9NRG9
Pfam PF00400
References
- UniProt :accession Q9NRG9
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=AAAS