Gene: ABHD1

Alternate names for this Gene: LABH1

Gene Summary: This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: abhydrolase domain containing 1

Type of Gene: protein-coding

Gene: PREB

Alternate names for this Gene: SEC12

Gene Summary: This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: prolactin regulatory element binding

Type of Gene: protein-coding

rs2304678 in ABHD1;PREB gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.