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FLASH GENE

Symbol

SMARCC1

contributors: mct - updated : 05-10-2015

HGNC name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
HGNC id	11104

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   represents a mechanism for inactivation of SWI/SNF complex activity in the development in human cancer constitutional   deletion     in the hematopoietic lineage caused defects at both the common lymphoid progenitor stage and the transition from pre-pro-B to early pro-B cells due to failures in the expression of B lineage-specific genes, such as EBF1 and IL7R ( constitutional       loss of function promoted G1 cell-cycle arrest, but antagonized apoptotic response to DNA damage by robustly inducing TP53 and CDKN1A proteins tumoral     --over   in prostate cancer and reveal a positive correlation with tumour dedifferentiation, progression, metastasis and time to recurrence

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Srg3 heterozygous mice were prone to sarcoma formation, which was further enhanced by haploinsufficiency of tp53