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MGP005075

Record overview

MGPD IDMGP005075
Gene ID50814
SpeciesHomo sapiens (Human)
Gene NameNAD(P) dependent steroid dehydrogenase-like
Gene Symbol NSDHL
SynonymsH105E3; XAP104; SDR31E1;
Alternate namessterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; protein H105e3; short chain dehydrogenase/reductase family 31E, member 1;
ChromosomeX
Map LocationXq28
EC Number1.1.1.170
SummaryThe 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, Jul 2008]
OrthologsView orthologs and multiple alignments for NSDHL

Proteins

sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Refseq ID:NP_001123237
Protein GI:193211614
UniProt ID:Q15738
mRNA ID:NM_001129765
Length:373
RefSeq Status:
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNT
VFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRP
HGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK
 
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Refseq ID:NP_057006
Protein GI:8393516
UniProt ID:Q15738
mRNA ID:NM_015922
Length:373
RefSeq Status:
Protein sequence is identical to GI:193211614 (mRNA isoform)
 
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