AHNAK, Official Symbol AHNAKprovided by HGNC Official Full Name AHNAK nucleoproteinprovided by HGNC Primary source HGNC:HGNC:347 See related Ensembl:ENSG00000124942 MIM:103390; AllianceGenome:HGNC:347 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PM227; AHNAK1; AHNAKRS Summary 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] Expression Ubiquitous expression in skin (RPKM 158.4), fat (RPKM 150.5) and 24 other tissues See more Orthologs mouse all