ALDH4A1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ALDH4A1 (HGNC:406) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- aldehyde dehydrogenase 4 family member A1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ALDH4
- Alias symbols
- P5CDh
- %HI
- 47.22(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.71(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.13
- Genomic Coordinates
-
GRCh37/hg19: chr1:19197924-19229049 NCBI Ensembl UCSC GRCh38/hg38: chr1:18871430-18902555 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003748.4 ENST00000375341.8 (Read more about MANE Select)
- Function
- Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma- semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. {ECO:0000269|PubMed:22516612}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-35170
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/09/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hyperprolinemia type 2 Monarch
HI Evidence Comments:
Variants in ALDH4A1 have been associated with hyperprolinemia type II, an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)