3-Hydroxyacyl-Coa Dehydratase 1

Alternative Names

  • HACD1
  • Protein Tyrosine Phosphatase-Like (Proline Instead Of Catalytic Arginine), Member A
  • PTPLA
Back to search Result
OMIM Number

610467

NCBI Gene ID

9200

Uniprot ID

B0YJ81

Length

28,343 bases

No. of Exons

7

No. of isoforms

2

Protein Name

Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

Molecular Mass

32388 Da

Amino Acid Count

288

Genomic Location

chr10:17,589,031-17,617,373

Gene Map Locus
10p12.33

Description

The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014241.3:c.458G>AUnited Arab EmiratesNC_000010.11:g.17603585C>TPathogenicLikely PathogenicMyopathy, Congenital, NonprogressiveNG_041789.1:g.18790G>A; NM_014241.3:c.458G>A; NP_055056.3:p.Trp153Ter1698408
NM_014241.4:c.373_375+2delIraqNC_000010.11:g.17603929_17603933delLikely PathogenicMyopathy, Congenital, NonprogressiveNG_041789.1:g.18443_18447del; NM_014241.4:c.373_375+2del; NP_055056.3:p.?
NM_014241.4:c.785-1G>TSaudi ArabiaNC_000010.11:g.17590447C>APathogenicLikely PathogenicMyopathy, Congenital, NonprogressiveNG_041789.1:g.31928G>T; NM_014241.4:c.785-1G>T; NP_055056.3:p.?1698409
© CAGS 2024. All rights reserved.