Alt. symbols: HHARP | HARP

Approved name: SNF2 related chromatin remodeling annealing helicase 1
Alt. names: HepA-related protein, ATP-driven annealing helicase

Location: 2q35: 216412383 - 216483053 (+)
Gene type: protein_coding, 27 transcripts.

Scores: LoFtool: 0.064300 | pLI: 0.00031436 | LOEUF: 0.611

HGNC: 11102

NCBI: 50485, RefSeq: NG_009771.1

Ensembl: ENSG00000138375.14

LRG_108 | Status: public

OMIM: 606622

Expression | ProteinAtlas

The SMARCAL1 gene codes for a chromatin-binding protein. Chromatin is the complex of DNA and proteins that makes up chromosomes. This protein is a hybridization helicase, which means that one of its functions is the remodeling of chromatin, being able to wind up two single strands of DNA that were unwound. This process is a form of regulation of gene expression during development, since this process is diminished when the DNA is highly packed. Therefore, this protein could also be important in the response to DNA damage.

The different types of mutations in the SMARCAL1 gene determine the severity of the pathology caused: if they cause a total absence of protein, the disease will be more serious than if they only cause a malfunction of the protein. Such mutations could affect the protein's activity, its stability, or its ability to bind to chromatin, but it is not yet clear how such mutations contribute to clinical manifestations such as short stature, kidney disease, or a weakened immune system. [Load More]