Cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene

Preferred Label : Cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene;

Symbol : CMAHP;

CISMeF acronym : CMAH; CMAHP; CSAH;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cmp-neu5ac hydroxylase; Cmp-neuac hydroxylase; Cmp-sialic acid hydroxylase; CSAH; CMAH;

Description : N-glycolylneuraminic acid (NeuGc), a sialic acid involved in cell-cell recognition and cell-pathogen interactions, is abundantly expressed in most mammals but is not detectable in humans. The expression of NeuGc is controlled by cytidine monophospho-N-acetylneuraminic acid (CMP-NeuAc) hydroxylase activity, which in humans is inactivated by a deletion in the CMAHP pseudogene that renders the enzyme nonfunctional (summary by Irie et al., 1998).;

Prefixed ID : 603209;

Details

Origin ID

603209;

UMLS CUI

C3146941;

Automatic exact mappings (from CISMeF team)
- CMPacetylneuraminate monooxygenase [MeSH concept]
- CMPacetylneuraminate monooxygenase [MeSH Supplementary Concept]
- Cytidine monophosphate-N-acetylneuraminate monooxygenase (substance) [SNOMED CT concept]
Currated CISMeF NLP mapping
- cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene [HGNC gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene [HGNC gene]

Keyword's position in hierarchy(ies) :

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