Aspartate Beta-Hydroxylase

Alternative Names

  • ASPH
  • Aspartyl/Asparaginyl-Beta-Hydroxylase
  • HAAH
  • BAH
Back to search Result
OMIM Number

600582

NCBI Gene ID

444

Uniprot ID

Q12797

Length

214,085 bases

No. of Exons

33

No. of isoforms

11

Protein Name

Aspartyl/asparaginyl beta-hydroxylase

Molecular Mass

85863 Da

Amino Acid Count

758

Genomic Location

chr8:61,500,556-61,714,640

Gene Map Locus
8q12.3

Description

The ASPH gene codes for the aspartate beta-hydroxylase enzyme that  hydroxylates the aspartic acid and asparagine residues of proteins
that contain an epidermal growth factor (EGF) domain. Some isoforms of the protein have been implicated in metastsis. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004318.3:c.1852_1856delAACCTinsGGGSaudi ArabiaChr8:61526021-61526025PathogenicPathogenicFacial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering BlebsNG_013210.1:g.193616_193620delAACCTinsGGG; NM_004318.3:c.1852_1856delAACCTinsGGG; NP_004309.2:p.Ser589Glufs*18879255574137614
NM_004318.3:c.2203C>TLebanonChr8:61503433PathogenicPathogenicFacial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering BlebsNG_013210.1:g.216208C>T ; NM_004318.3:c.2203C>T; NP_004309.2:p.Arg735Trp374385878137615
© CAGS 2024. All rights reserved.