DST

Also known as BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2

gene umano

In the Vinony graph

Within Vinony's link graph, DST is referenced by 285 other articles, and connects out to hair keratin, PubMed and Ensembl genome database project.

Vinony files it under EF-hand-containing proteins, Genes on human chromosome 6 and Plakins.

Its subject is documented across 5 Wikipedia language editions.

Gene data

DST

Name: dystonin
Type: protein-coding
Position: 56,457,981–56,955,274 (−)
Aliases: BP240, BPA, BPAG1, CATX-15, CATX15, CMYO29, D6S1101, DMH, DT, EBS3
Ensembl: ENSG00000151914
RefSeq RNA: NM_001144769.5, NM_001144770.2, NM_001144771.1, NM_001374722.1, NM_001374729.1
RefSeq protein: NP_001138241.1, NP_001138242.1, NP_001361651.1, NP_001361658.1, NP_001361659.1

This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010].