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HCA1 Hypercalciuria, absorptive, 1 [ Homo sapiens (human) ]

Gene ID: 266790, updated on 31-Aug-2024

Summary

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Official Symbol
HCA1provided by HGNC
Official Full Name
Hypercalciuria, absorptive, 1provided by HGNC
Primary source
MIM:607258
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AH; HCA

Genomic context

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Location:
4q33-qter

Bibliography

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Related articles in PubMed

  1. Distinct pathways of ERK1/2 activation by hydroxy-carboxylic acid receptor-1. Li G, et al. PLoS One, 2014. PMID 24671202, Free PMC Article
  2. 4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls. Imamura K, et al. Am J Med Genet, 1998 Jun 16. PMID 9637423
  3. 4q- syndrome. Townes PL, et al. Am J Dis Child, 1979 Apr. PMID 433854
  4. Immunoreactivity of receptor and transporters for lactate located in astrocytes and epithelial cells of choroid plexus of human brain. Murakami R, et al. Neurosci Lett, 2021 Jan 10. PMID 33212210

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immunoreactivity of receptor and transporters for lactate located in astrocytes and epithelial cells of choroid plexus of human brain.
    Title: Immunoreactivity of receptor and transporters for lactate located in astrocytes and epithelial cells of choroid plexus of human brain.
  2. HCA1 receptors initially activate Gi, leading to dissociation of the G-beta-gamma subunit from activated Gi, and subsequently induce ERK1/2 activation via two distinct pathways.
    Title: Distinct pathways of ERK1/2 activation by hydroxy-carboxylic acid receptor-1.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description Tests
Hypercalciuria, absorptive, 1
OMIM: 607258GeneReviews: Not available

General gene information

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Property

  • phenotype only

Gene LinkOut

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