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Description for Protein NSDHL

NAD(P) dependent steroid dehydrogenase-like
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 3)
Summary:
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.1.1.170
    KEGG - Orthology:
    K07748
    KEGG - Pathway(s):
    hsa00100; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    H105e3 protein
    Approved Symbol:
    NSDHL
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • NADH(db)

    Associated Genetic Diseases:

  • Child syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02229 Entrez Gene ID: 50814 OMIM ID: 300275 Swissprot Accession: Q15738;