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 Miyoshi Muscular Dystrophy and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B. Among its related pathways are Salmonella infection (KEGG) and Phospholipase-C Pathway. 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 Summary for AHNAK Gene
May be required for neuronal cell differentiation.