| General information | Literature | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 50485 |
Name | SMARCAL1 |
Synonymous | HARP|HHARP;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1;SMARCAL1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
Definition | ATP-driven annealing helicase|HepA-related protein|SMARCA-like protein 1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1|sucrose nonfermenting protein 2-like 1 |
Position | 2q35 |
Gene type | protein-coding |
Cancer type | Abstract |
| undifferentiated Carcinoma;unclassified | Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder of childhood with classical features of spondyloepiphyseal dysplasia, renal failure, and T cell immunodeficiency. SIOD has been associated with several malignancies,including non-Hodgkin lymphoma and osteosarcoma. About half of SIOD patients have biallelic mutations in SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1). This gene encodes an annealing helicase and replication stress response protein that localizes to damage-stalled DNA replication forks. We report a child with SIOD and a novel S859P missense mutation in SMARCAL1 who developed undifferentiated carcinoma of the sinus. Pediatr Blood cancer 2013;60:E88-E90. (c) 2013 Wiley Periodicals, Inc.#CI- Copyright (c) 2013 Wiley Periodicals, Inc. |