NSDHL

GENE INFORMATION

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Gene name

NSDHL (HGNC Symbol)

Synonyms

H105e3, SDR31E1, XAP104

Description

NAD(P) dependent steroid dehydrogenase-like (HGNC Symbol)

Entrez gene 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, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

151999511 - 152038273

Ensembl

ENSG00000147383 (version 73.37)

Entrez gene

50814

UniProt

Q15738 (UniProt - Evidence at protein level)

neXtProt

NX_Q15738

Antibodypedia

NSDHL antibodies
 

PROTEIN VIEW

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NSDHL-001
 
NSDHL-002
 
NSDHL-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NSDHL-001 ENSP00000359297
ENST00000370274
Q15738
Show all »
Show » Show » 373 41.9 No 1
NSDHL-002 ENSP00000396266
ENST00000432467
C9JDR0
Show all »
Show » Show » 254 28.1 No 0
NSDHL-201 ENSP00000391854
ENST00000440023
Q15738
Show all »
Show » Show » 373 41.9 No 1