Gene: SRD5A3-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SRD5A3

Alternate names for this Gene: CDG1P|CDG1Q|KRIZI|SRD5A2L|SRD5A2L1

Gene Summary: The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq.

Gene is located in Chromosome: 4

Location in Chromosome : 4q12

Description of this Gene: steroid 5 alpha-reductase 3

Type of Gene: protein-coding

rs765191836 in SRD5A3-AS1;SRD5A3 gene and Dysmorphic features PMID 28253385 2017 Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

PMID 24433453 2014 Adult phenotype and further phenotypic variability in SRD5A3-CDG.

PMID 20700148 2011 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

PMID 20852264 2010 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

PMID 27480077 2016 SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

PMID 26219881 2016 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

PMID 20637498 2010 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

rs765191836 in SRD5A3-AS1;SRD5A3 gene and Muscle hypotonia PMID 24433453 2014 Adult phenotype and further phenotypic variability in SRD5A3-CDG.

PMID 27480077 2016 SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

PMID 20852264 2010 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

PMID 28253385 2017 Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

PMID 20637498 2010 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

PMID 20700148 2011 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

PMID 26219881 2016 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.