2. Gene
  3. Nsdhl - NAD(P) dependent steroid dehydrogenase-like Gene

Nsdhl - NAD(P) dependent steroid dehydrogenase-like Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Bpa; Str; H105E3; XAP104

Gene ID: 18194 | Gene type: protein coding

About Nsdhl

Summary

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within several processes, including Cholesterol metabolic process; hair follicle development; and labyrinthine layer blood vessel development. Located in endoplasmic reticulum and lipid droplet. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; integumental system; and nervous system. Used to study Bloch-Sulzberger syndrome and X-linked chondrodysplasia punctata 1. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Orthologous to human NSDHL (NAD(P) dependent steroid dehydrogenase-like). [provided by Alliance of Genome Resources, Apr 2022]

Nsdhl Products(1)

mRNA Protein Name
NM_010941.3 NP_035071.3 sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within cholesterol metabolic process IMP
IMP: Inferred from mutant phenotype
10369263 MGI
acts upstream of or within hair follicle development IMP
IMP: Inferred from mutant phenotype
4435359 MGI
acts upstream of or within labyrinthine layer blood vessel development IMP
IMP: Inferred from mutant phenotype
17028112 MGI
acts upstream of or within smoothened signaling pathway IGI
IGI: Inferred from genetic interaction
17028112 MGI
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
14506130 MGI
located in lipid droplet IDA
IDA: Inferred from direct assay
14506130 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

NAD(P)-dependent steroid dehydrogenase-like protein

bare patches

striated

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09590 NSDHL Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Nsdhl NCBI NCBI:50814