DTNA
Sign in to saveAlso known as D18S892E, DRP3, DTN, DTN-A, LVNC1, dystrobrevin alpha
protein-coding gene in the species Homo sapiens
Gene data
DTNA- Name
- dystrobrevin alpha
- Type
- protein-coding
- Position
- 34,493,207–34,891,844 (+)
- Aliases
- D18S892E, DRP3, DTN, DTN-A, LVNC1, MMCKR2
- Ensembl
- ENSG00000134769
- RefSeq RNA
- NM_001128175.2, NM_001198938.2, NM_001198939.2, NM_001198940.2, NM_001198941.2
- RefSeq protein
- NP_001121647.1, NP_001185867.1, NP_001185868.1, NP_001185869.1, NP_001185870.1
The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
dystrobrevin alpha
- Symbol
- DTNA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:34,493,207-34,891,844
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 20362
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1837
- genomic end
- 32471808
- genomic start
- 32073254
- chromosome
- human chromosome 18
- cytogenetic location
- 18q12.1
- genetic association
- left ventricular noncompaction
- expressed in
- putamen
Sources (4)
via Wikidata · CC0