Disease-gene associations mined from literature

Literature associating SMARCAL1 and immunodeficiency 31B

SMARCAL1 [ENSP00000349823]

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks.

Synonyms:  SMARCAL1,  C9J6I8,  C9J8F8,  C9JHQ1,  C9JP32 ...

Linkouts:  STRING  Pharos  UniProt  OMIM