Gene: SLC35A2
Alternate names for this Gene: CDG2M|CDGX|UDP-Gal-Tr|UGALT|UGAT|UGT|UGT1|UGT2|UGTL
Gene Summary: This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Gene is located in Chromosome: X
Location in Chromosome : Xp11.23
Description of this Gene: solute carrier family 35 member A2
Type of Gene: protein-coding
Gene: PQBP1
Alternate names for this Gene: MRX2|MRX55|MRXS3|MRXS8|NPW38|RENS1|SHS
Gene Summary: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.
Gene is located in Chromosome: X
Location in Chromosome : Xp11.23
Description of this Gene: polyglutamine binding protein 1
Type of Gene: protein-coding
rs1557041672 in
SLC35A2;PQBP1 gene and
Renpenning syndrome 1
PMID 20950397 2011 The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
PMID 9545405 1998 Renpenning syndrome maps to Xp11.
PMID 15024694 2004 Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.