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- NCIT_C106440 IAO_0000115 "Human PSAP wild-type allele is located within 10q21-q22 and is approximately 35 kb in length. This allele, which encodes prosaposin protein, plays a role in the positive regulation of lipid hydrolysis. Mutation of the gene is associated with combined saposin deficiency, leukodystrophy metachromatic due to saposin-B deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, due to saposin A deficiency and Tay-Sachs disease." @default.
- NCIT_C106440 NCIT_NHC0 "C106440" @default.
- NCIT_C106440 NCIT_P100 "176801" @default.
- NCIT_C106440 NCIT_P102 "BC004275" @default.
- NCIT_C106440 NCIT_P106 "Gene or Genome" @default.
- NCIT_C106440 NCIT_P107 "PSAP wt Allele" @default.
- NCIT_C106440 NCIT_P108 "PSAP wt Allele" @default.
- NCIT_C106440 NCIT_P207 "C3811239" @default.
- NCIT_C106440 NCIT_P321 "5660" @default.
- NCIT_C106440 NCIT_P322 "CTRP" @default.
- NCIT_C106440 NCIT_P98 "PSAP mutations that cause saposin-B deficiency are associated with metachromatic leukodystrophy due to saposin B deficiency. Mutations that cause saposin-C deficiency are associated with Gaucher disease. Mutations that cause saposin-A deficiency are associated with Krabbe disease. Certain point mutations affecting the saposin-D region are associated with autosomal dominant Parkinson disease type 24. Loss of function mutations, especially mutations resulting in premature stop codons in the PSAP coding sequence, are associated with combined saposin (SAP) deficiency. (OMIM)" @default.
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- NCIT_C106440 hasExactSynonym "GLBA" @default.
- NCIT_C106440 hasExactSynonym "PARK24" @default.
- NCIT_C106440 hasExactSynonym "PSAP wt Allele" @default.
- NCIT_C106440 hasExactSynonym "PSAPD" @default.
- NCIT_C106440 hasExactSynonym "Prosaposin wt Allele" @default.
- NCIT_C106440 hasExactSynonym "SAP1" @default.
- NCIT_C106440 hasExactSynonym "SAP2" @default.
- NCIT_C106440 hasExactSynonym "Variant Gaucher Disease and Variant Metachromatic Leukodystrophy Gene" @default.
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- NCIT_C106440 type Class @default.
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- NCIT_C106440 label "PSAP wt Allele" @default.
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