Gene: AEBP1

Alternate names for this Gene: ACLP

Gene Summary: This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma.

Gene is located in Chromosome: 7

Location in Chromosome : 7p13

Description of this Gene: AE binding protein 1

Type of Gene: protein-coding

rs55841377 in AEBP1 gene and Carpal Tunnel Syndrome PMID 30833571 2019 A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

rs777647845 in AEBP1 gene and EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 PMID 29606302 2018 Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.