| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
CATALYTIC ACTIVITY: 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest- 7-ene-4-alpha-carboxylate + NAD(P)(+) = 4-alpha-methyl-5-alpha- cholest-7-en-3-one + CO(2) + NAD(P)H. PATHWAY: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6. SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential). TISSUE SPECIFICITY: Brain, heart, liver, lung, kidney, skin and placenta. DISEASE: Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]. CHILD is an X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. DISEASE: Defects in NSDHL are the cause of CK syndrome (CKS) [MIM:300831]. CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. SIMILARITY: Belongs to the 3-beta-HSD family. GENE SYNONYMS:NSDHL H105E3. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 373 AA; 41900 MW; 30A6E5CE91ED1C77 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:13398,
urn:biopax:RelationshipXref:NCBI GENE_50814,
urn:biopax:RelationshipXref:REFSEQ_NP_001123237,
urn:biopax:RelationshipXref:REFSEQ_NP_057006,
urn:biopax:UnificationXref:UNIPROT_D3DWT6,
urn:biopax:UnificationXref:UNIPROT_O00344,
urn:biopax:UnificationXref:UNIPROT_Q15738
|
| biopax3:displayName |
NSDHL_HUMAN
|
| biopax3:name |
1.1.1.170,
NSDHL,
Protein H105e3
|
| biopax3:organism | |
| biopax3:sequence |
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK
|
| biopax3:standardName |
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
|