ALG8 Antibody

1. used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum. PMID:28375157
2. In ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions PMID:26066342
3. We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-disorder of glycosylation with a special focus on their skin signs. PMID:24555185
4. Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8 PMID:22306853
5. ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. PMID:19648040
6. ALG8 splice site mutations and missense mutations causing ALG8 deficiency in patients with congenital disorders of glycosylation type Ih. PMID:15235028

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HGNC: 23161

UNIGENE: Hs.503368

KEGG: hsa:79053

STRING: 9606.ENSP00000299626

OMIM: 608103