2. Gene
  3. HSD17B7 - hydroxysteroid 17-beta dehydrogenase 7 Gene

HSD17B7 - hydroxysteroid 17-beta dehydrogenase 7 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PRAP; SDR37C1

Gene ID: 51478 | Gene type: protein coding

About HSD17B7

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,790,702-162,812,823 (from NCBI)

This gene has 10 transcripts (splice variants), 247 orthologues and 25 paralogues. Ubiquitous expression in adrenal (RPKM 6.0), lymph node (RPKM 4.5) and 25 other tissues.

Summary

HSD17B7 encodes an Enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex Steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of Cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

HSD17B7 Products(3)

mRNA Protein Name
NM_001304512.2 NP_001291441.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2
NM_001304513.2 NP_001291442.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 3
NM_016371.4 NP_057455.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 1

HSD17B7 Protein Structure

adh_short

adh_short: short chain dehydrogenase (3 - 155)

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  • 341 a.a.
Protein Preferred Names Protein Names

3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7

17 beta-hydroxysteroid dehydrogenase type VII

Related Diseases

Diseases Alias
Ck Syndrome

CKS

X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome

Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome

Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs

Child Nevus

Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects

Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects

Ichthyosis, Child Syndrome

Child Syndrome Ichthyosis

CHILD
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06399 HSD17B7 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-W749520 Zymosterone / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus HSD17B7 VGNC VGNC:67660
Rattus norvegicus HSD17B7 RGD RGD:2837
Mus musculus HSD17B7 MGD MGI:1330808
Bos taurus HSD17B7 VGNC VGNC:29976
Canis familiaris HSD17B7 VGNC VGNC:41809