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Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
Brenham state school opened in January 1974, and was the first of the Texas State Schools to be certified as an ICF-MR (Intermediate Care Facility - Mentally/Intellectually Challenged). Brenham State school features a nature area, primarily for use of residents and family members but also available on a limited basis to outside organizations ...
The history of state schools and psychiatric hospitals are linked throughout history. State schools started being built in the United States in the 1850s. People often used the term "feeble-minded" which could apply to both intellectual and developmental disabilities and mental illness, or in some cases, perceived sexual promiscuity.
This is a list of school districts in Texas, sorted by Education Service Center (ESC) Region and then by County.. There are multiple classifications of school districts. Among them are independent school districts, common school districts, municipal school districts, rural high school districts, industrial training school districts, rehabilitation districts for the handicapped, and several ...
ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. [1]
29858 Ensembl ENSG00000100417 ENSMUSG00000022474 UniProt Q92871 O35621 RefSeq (mRNA) NM_002676 NM_001282040 NM_001282041 NM_013872 RefSeq (protein) NP_002667 NP_001268969 NP_001268970 NP_038900 Location (UCSC) Chr 22: 41.58 – 41.59 Mb Chr 15: 81.84 – 81.85 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene ...