DISEASES

Disease-gene associations mined from literature

Literature associating PIGM and multiple congenital anomalies-hypotonia-seizures syndrome 2

PIGM [ENSP00000357069]

GPI mannosyltransferase 1; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN- acyl-PI during GPI precursor assembly; Belongs to the PIGM family.

Synonyms:  PIGM,  Q9H3S5,  Q9H3S5p,  hQ9H3S5,  2.4.1.- ...

Linkouts:  STRING  Pharos  UniProt  OMIM