Gene: SUFU

Alternate names for this Gene: JBTS32|PRO1280|SUFUH|SUFUXL

Gene Summary: The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.32

Description of this Gene: SUFU negative regulator of hedgehog signaling

Type of Gene: protein-coding

Gene: ACTR1A

Alternate names for this Gene: ARP1|Arp1A|CTRN1

Gene Summary: This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.32

Description of this Gene: actin related protein 1A

Type of Gene: protein-coding

rs2274351 in SUFU;ACTR1A gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.