Format

Send to:

Choose Destination

GULOP gulonolactone (L-) oxidase, pseudogene [ Homo sapiens (human) ]

Gene ID: 2989, updated on 22-Aug-2020

Summary

Official Symbol
GULOPprovided by HGNC
Official Full Name
gulonolactone (L-) oxidase, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:4695
See related
MIM:240400
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GULO; SCURVY
Summary
This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]

Genomic context

See GULOP in Genome Data Viewer
Location:
8p21.1
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (27577611..27589073)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27435128..27446590)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 2 subunit Neighboring gene CRISPRi-validated cis-regulatory element chr8.973 Neighboring gene epoxide hydrolase 2 Neighboring gene microRNA 6843 Neighboring gene clusterin Neighboring gene scavenger receptor class A member 3 Neighboring gene RNA, U6 small nuclear 1086, pseudogene

Genomic regions, transcripts, and products

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_001136.2 

    Range
    101..11563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    27577611..27589073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center