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Gene: NSDHL (NAD(P) dependent steroid dehydrogenase-like) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on NSDHL
Alliance Gene
NCBI 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



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