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Alpha-1,2-mannosyltransferase ALG9

The ALG9 gene encodes an important enzyme of of glycosylation metabolism. Mutations cause autosomal recessive gycosylation disorder type 1L and Gillessen-Kaesbach-Nishimura syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital disorder of glycosylation 1L
ALG9
Gillessen-Kaesbach-Nishimura syndrome
ALG9

References:

1.

Frank CG et al. (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

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2.

Weinstein M et al. (2005) CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

external link
3.

Tham E et al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

external link
4.

Baysal BE et al. (1998) Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree.

external link
5.

Baysal BE et al. (2002) A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.

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6.

Orphanet article

Orphanet ID 119629 external link
7.

NCBI article

NCBI 79796 external link
8.

OMIM.ORG article

Omim 606941 external link
9.

Wikipedia article

Wikipedia EN (ALG9) external link
Update: Aug. 14, 2020
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