Даблкортин

Name

doublecortin

Type

protein-coding

Chromosome

X

Position

111,293,779–111,412,429 (−)

Aliases

DBCN, DC, LISX, SCLH, XLIS

Ensembl

ENSG00000077279

RefSeq RNA

NM_000555.3, NM_001195553.2, NM_001369370.1, NM_001369371.1, NM_001369372.1

RefSeq protein

NP_000546.2, NP_001182482.1, NP_001356299.1, NP_001356300.1, NP_001356301.1

This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ('double cortex' syndrome) in females and lissencephaly ('smooth brain' syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010].

via MyGene.info

Gene · Ensembl

doublecortin

Symbol

DCX

Biotype

Protein coding

Organism

Homo sapiens

Location

Chr X:111,293,779-111,412,429

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein DCX PDB 1mjd.png

via Wikidata · CC0