Results for "Smith-Lemli-Opitz syndrome": 4 genes

Name

SMCR8 Gene

Smith-Magenis syndrome chromosome region, candidate 8

Enables GTPase activator activity; protein kinase binding activity; and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of gene expression; regulation of TOR signaling; and regulation of macroautophagy. Located in Atg1/ULK1 kinase complex; chromatin; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Mar 2025]

SMCR2 Gene

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

SMCR5 Gene

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

SMCR6 Gene

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)