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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]
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 ...
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 ...
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Texas State University comprises over 8 million gross square feet in facilities and its campuses are located on over 600 acres with an additional 4,000 acres of agriculture, research, and recreational areas. The Texas State University main campus is located in San Marcos, Texas, midway between Austin and San Antonio along Interstate 35.
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]
Texas A&M University; Texas A&M University at Galveston; Texas A&M University–Central Texas; East Texas A&M University; Texas A&M University–Corpus Christi; Texas A&M University–Kingsville; Texas A&M University–San Antonio; Texas A&M University–Texarkana; Texas Southern University; Texas State University; Texas Tech University; Texas ...
State Highway 308 (SH 308) or College Avenue, runs from FM 60 (University Drive) in College Station north to Sulphur Springs Road in Bryan.It is one route from the Texas A&M University campus to the university's Hensel Park, a recreation facility for faculty, staff, and students of the university.