SMARCAD1

Chr 4AD

SNF2 related chromatin remodeling ATPase with DExD box 1

Also known as: ADERM, BASNS, ETL1, HEL1, HPGDS-AS1, HRZ, TYS

NCBI Gene: 56916 ENSG00000163104 UniProt: Q9H4L7 OMIM: 612761

The SMARCAD1 protein is an ATP-dependent chromatin remodeling enzyme that facilitates DNA repair and maintains heterochromatin organization by mediating histone modifications and nucleosome assembly. Mutations cause autosomal dominant ectodermal disorders including adermatoglyphia (absence of fingerprints), Basan syndrome, and Huriez syndrome. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

AdermatoglyphiaMIM #136000

Basan syndromeMIM #129200

Huriez syndromeMIM #181600

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.08

LOEUF· LoF intol.

LOF

Mechanism· predicted