Gene

aldh4a1

ID

ZDB-GENE-040426-1179

Name

aldehyde dehydrogenase 4 family, member A1

Symbol

aldh4a1 Nomenclature History

Previous Names

zgc:63592

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Predicted to have 1-pyrroline-5-carboxylate dehydrogenase activity. Predicted to be involved in oxidation-reduction process and proline catabolic process to glutamate. Predicted to localize to mitochondrial matrix. Human ortholog(s) of this gene implicated in hyperprolinemia type 2. Is expressed in several structures, including alar plate midbrain region; optic tectum; optic vesicle; pronephric duct; and yolk syncytial layer. Orthologous to human ALDH4A1 (aldehyde dehydrogenase 4 family member A1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:63592 (7 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With aldh4a1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hyperprolinemia type 2	Alliance	Hyperprolinemia, type II	239510

Associated With aldh4a1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR016160	Aldehyde dehydrogenase, cysteine active site
Conserved_site	IPR029510	Aldehyde dehydrogenase, glutamic acid active site
Domain	IPR015590	Aldehyde dehydrogenase domain
Family	IPR005931	Delta-1-pyrroline-5-carboxylate dehydrogenase
Homologous_superfamily	IPR016161	Aldehyde/histidinol dehydrogenase
Homologous_superfamily	IPR016162	Aldehyde dehydrogenase, N-terminal
Homologous_superfamily	IPR016163	Aldehyde dehydrogenase, C-terminal