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Gene: NSDHL (NAD(P) dependent steroid dehydrogenase-like) Homo sapiens
Symbol: NSDHL
Name: NAD(P) dependent steroid dehydrogenase-like
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: H105E3; SDR31E1; short chain dehydrogenase/reductase family 31E, member 1; sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; XAP104
Mus musculus (house mouse) : Nsdhl (NAD(P) dependent steroid dehydrogenase-like)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nsdhl (NAD(P) dependent steroid dehydrogenase-like)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nsdhl (NAD(P) dependent steroid dehydrogenase-like)
Pan paniscus (bonobo/pygmy chimpanzee) : NSDHL (NAD(P) dependent steroid dehydrogenase-like)
Canis lupus familiaris (dog) : NSDHL (NAD(P) dependent steroid dehydrogenase-like)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nsdhl (NAD(P) dependent steroid dehydrogenase-like)
Sus scrofa (pig) : NSDHL (NAD(P) dependent steroid dehydrogenase-like)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X152,830,967 - 152,869,363 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X151,999,511 - 152,037,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X151,750,167 - 151,788,563 (+)NCBINCBI36hg18NCBI36
Build 34X151,670,078 - 151,708,475NCBI
CeleraX152,333,895 - 152,372,297 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX140,816,165 - 140,839,247 (+)NCBIHuRef
CHM1_1X151,874,102 - 151,912,500 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on NSDHL
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1343590
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.