Domain

DGCR2-like, C-type lectin-like domain (IPR034010)

Short name: DGCR2-like_CTLD

Overlapping homologous superfamilies

Domain relationships

Description

This C-type lectin-like domain (CTLD) is found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS). CTLD refers to a domain homologous to the carbohydrate-recognition domains (CRDs) of the C-type lectins. DGS is also known velo-cardio-facial syndrome (VCFS). DGS is a genetic abnormality that results in malformations of the heart, face, and limbs and is associated with schizophrenia and depressive disorders. DGCR2 is a candidate for involvement in the pathogenesis of DGS since the DGCR2 gene lies within the minimal DGS critical region (MDGRC) of 22q11, which when deleted gives rise to DGS, and the DGCR2 gene is in close proximity to the balanced translocation breakpoint in a DGS patient having a balanced translocation [PMID: 8776594, PMID: 12175881, PMID: 7655455].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
CDD