SMARCAD1
Sign in to saveAlso known as ADERM, ETL1, HEL1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1, BASNS, HRZ
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 is a protein that in humans is encoded by the SMARCAD1 gene.
Gene data
SMARCAD1- Name
- SNF2 related chromatin remodeling ATPase with DExD box 1
- Type
- protein-coding
- Aliases
- ADERM, BASNS, ETL1, HEL1, HPGDS-AS1, HRZ, TYS
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].
via MyGene.info
Gene · Ensembl
SNF2 related chromatin remodeling ATPase with DExD box 1
- Symbol
- SMARCAD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:94,207,598-94,291,293
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 5301
- genetic association
- adermatoglyphia
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/56916
- genomic end
- 95212443
- genomic start
- 95128762
- chromosome
- human chromosome 4
- cytogenetic location
- 4q22.3
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 is a protein that in humans is encoded by the SMARCAD1 gene.
Proper expression of SMARCAD1 may be important to fingerprint development, and the disruption of its expression is believed to cause adermatoglyphia, the absence of fingerprints.
Excerpted from Wikipedia’s “SMARCAD1” article, available under the CC BY-SA 4.0 licence.