Family

Dymeclin (IPR019142)

Short name: Dymeclin

Family relationships

None.

Description

Dymeclin (Dyggve-Melchior-Clausen syndrome protein) contains a large number of leucine and isoleucine residues and a total of 17 repeated dileucine motifs. It is characteristically about 700 residues long and present in plants and animals. In humans, mutations in the gene coding for this protein give rise to a disorder called Dyggve-Melchior-Clausen syndrome (DMC, MIM 223800), which is an autosomal-recessive disorder characterised by the association of spondylo-epi-metaphyseal dysplasia and mental retardation [PMID: 12554689].

This entry also includes Hid1 (high-temperature-induced dauer-formation protein 1) from Caenorhabditis elegans which encodes a novel highly conserved putative transmembrane protein expressed in neurons [PMID: 14504222]. It contains up to seven potential transmembrane domains separated by regions of low complexity. Functionally this protein might be involved in vesicle secretion or be an inter-cellular signalling protein or be a novel insulin receptor [PMID: 14504222].

Contributing signatures

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