Property Summary

NCBI Gene PubMed Count 19
PubMed Score 12.43
PubTator Score 14.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.928 0.000
atypical teratoid / rhabdoid tumor 1.100 0.000
lung cancer 1.900 0.004
ovarian cancer 1.900 0.000

Synonym

Accession Q9BVK2 A6NDW6 O60860
Symbols CDG1H

Gene

PANTHER Protein Class (2)

Gene RIF (6)

PMID Text
26066342 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
24555185 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.
22306853 Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19648040 ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
15235028 ALG8 splice site mutations and missense mutations causing ALG8 deficiency in patients with congenital disorders of glycosylation type Ih.

AA Sequence

MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEATSEWTLDYPPF      1 - 70
FAWFEYILSHVAKYFDQEMLNVHNLNYSSSRTLLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEK     71 - 140
PKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARLFQKRHMEGAFLFAVLLHFKHIYLYVAPAYG    141 - 210
VYLLRSYCFTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAY    211 - 280
WAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIF    281 - 350
CLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPL    351 - 420
LFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFI    421 - 490
PLLLTSVYCAVGITYAWFKLYVSVLIDSAIGKTKKQ                                      491 - 526
//

Text Mined References (19)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26066342 2015 ALG8-CDG: novel patients and review of the literature.
24555185 Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
22306853 2012 Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19648040 2009 Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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