Literature summary for 2.4.1.259 extracted from

Coss, K.P.; Treacy, E.P.; Cotter, E.J.; Knerr, I.; Murray, D.W.; Shin, Y.S.; Doran, P.P.
Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism? (2014), Mol. Genet. Metab., 113, 177-187.

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Application

Application	Comment	Organism
medicine	T-lymphocytes from adult patients suffering classical galactosaemia identified systemic dysregulation of numerous gene pathways, including the glycosylation, inflammatory and inositol pathways. The glycosylation gene alpha-1,2-mannosyltransferase (ALG9) and the inflammatory gene annexin A1 (ANXA1) are susceptible to increased galactose concentrations. The expression of ALG9 is increased by 4.3fold in Galactosaemia versus healthy controls. Expression of Alg9 grown in galactose-free media is decreased significantly Galactosaemia dermal fibroblasts cell-lines at 30 min, compared with normal dermal fibroblast cells	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	dermal fibroblast	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
ALG9	-	Homo sapiens

Expression

Organism	Comment	Expression
Homo sapiens	expression of ALG9 is increased by 4.3fold in Galactosaemia versus healthy controls	up

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Release 2023.1 (January 2023)