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:
Related Diseases:
References:
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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.
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3. |
Tham E et al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
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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.
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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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Orphanet article
Orphanet ID 119629
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7. |
NCBI article
NCBI 79796
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8. |
OMIM.ORG article
Omim 606941
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9. |
Wikipedia article
Wikipedia EN (ALG9)
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Update: Aug. 14, 2020