archain 1 coat protein complex I subunit delta
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Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownshort stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
hereditary disease
microcephaly
infection
vitiligo
oculocutaneous albinism type 6
acroleukopathy, symmetric
autosomal recessive primary microcephaly
Dysequilibrium syndrome
Joubert syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Coatomer subunit delta
Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity)
ARCN1 · P48444
Mean pLDDT
83.1/ 100
Confident
511 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
