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AEBP1

Domain

Isoform 1

The F5/8 type C domain binds to different types of collagen, including collagens I, III, and V.

Function

Isoform 1

As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellular matrix.

Isoform 2

May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor.

Involvement in disease

Ehlers-Danlos syndrome, classic-like, 2

EDSCLL2

A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated by MAPK1 in vitro.

Sequence Similarities

Belongs to the peptidase M14 family.

Tissue Specificity

Expressed in osteoblast and visceral fat.

Cellular localization

Alternative names

ACLP, AEBP1, Adipocyte enhancer-binding protein 1, AE-binding protein 1, Aortic carboxypeptidase-like protein

swissprot:Q8IUX7 entrezGene:165 swissprot:Q14113 omim:602981