UNC13D
Sign in to saveAlso known as FHL3, HLH3, HPLH3, Munc13-4, unc-13 homolog D
Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.
Gene data
UNC13D- Name
- unc-13 homolog D
- Type
- protein-coding
- Aliases
- HLH3, HPLH3, Munc13-4
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
unc-13 homolog D
- Symbol
- UNC13D
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:75,827,032-75,845,353
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 26714
- exact match
- identifiers.org/ncbigene/201294
- genomic end
- 75844552
- genomic start
- 73823306
- cytogenetic location
- 17q25.1
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.
== Function ==