RecName: Full=GPI mannosyltransferase 1; AltName: Full=GPI mannosyltra - Protein

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Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. [Mol Genet Metab. 2019]
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, et al. Mol Genet Metab. 2019 Sep-Oct; 128(1-2):151-161. Epub 2019 Aug 14.
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency. [Blood. 2014]
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
Costa JR, Caputo VS, Makarona K, Layton DM, Roberts IA, Almeida AM, Karadimitris A. Blood. 2014 Nov 13; 124(20):3151-4. Epub 2014 Oct 7.
Targeted therapy for inherited GPI deficiency. [N Engl J Med. 2007]
Targeted therapy for inherited GPI deficiency.
Almeida AM, Murakami Y, Baker A, Maeda Y, Roberts IA, Kinoshita T, Layton DM, Karadimitris A. N Engl J Med. 2007 Apr 19; 356(16):1641-7.

RefSeq genomic sequence
See the genomic reference sequence for the PIGM gene (NG_012238.1).
RefSeq protein
See the reference protein sequence for GPI mannosyltransferase 1 (NP_660150.1).

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Q9H3S5 [Domain Mapping of Disease Mut...]
Q9H3S5
Domain Mapping of Disease Mutations
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