SIM1 (Entrez ID: 6492)

Entrez Gene ID 6492
Official Gene Symbol SIM1 (GeneCards)
Full name SIM bHLH transcription factor 1
Location 6q16.3
Other ids Vega : OTTHUMG00000015275
MIM : 603128
HGNC : HGNC:10882
Ensembl : ENSG00000112246
Other names bHLHe14
Summary SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]

Variants

Found 1 variant in this database.