Aliases for AHNAK Gene
External Ids for AHNAK Gene
Previous GeneCards Identifiers for AHNAK Gene
The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
GeneCards Summary for AHNAK Gene
AHNAK (AHNAK Nucleoprotein) is a Protein Coding gene. Diseases associated with AHNAK include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B and Hirschsprung Disease 1. Gene Ontology (GO) annotations related to this gene include structural molecule activity conferring elasticity. An important paralog of this gene is AHNAK2.
UniProtKB/Swiss-Prot for AHNAK Gene
May be required for neuronal cell differentiation.