Aldehyde Dehydrogenase, Family 3, Subfamily A, Member 2

Alternative Names

ALDH3A2
Fatty Aldehyde Dehydrogenase
FALDH
Aldehyde Dehydrogenase 10
ALDH10

Length

37,625 bases

No. of Exons

No. of isoforms

Protein Name

Aldehyde Dehydrogenase Family 3 Member A2

Molecular Mass

54848 Da

Amino Acid Count

485

Genomic Location

chr17:19,648,136-19,685,760

Gene Map Locus

17p11.2

Description

The ALDH3A2 gene encodes an enzyme involved in the cellular aldehyde metabolic process. Specfically, it is responsible for catalysing the oxidation of medium and long chain aliphatic aldehydes to fatty acids. By carrying out its role, the enzyme plays a part in the development of the central and peripheral nervous system as well as the epidermis.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000382.2:c.682C>T	United Arab Emirates	NC_000017.11:g.19657746C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Sjogren-Larsson Syndrome	NG_007095.2:g.13996C>T; NM_000382.2:c.682C>T; NP_000373.1:p.Arg228Cys	72547566	556574
NM_000382.3:c.628G>A	Jordan	NC_000017.11:g.19656522G>A		Pathogenic	Sjogren-Larsson Syndrome	NG_007095.2:g.12772G>A; NM_000382.3:c.628G>A; NP_000373.1:p.Gly210Arg	1171947633
NM_000382.3:c.710G>A	Lebanon	NC_000017.11:g.19657774G>A	Likely Pathogenic, Pathogenic	Pathogenic	Sjogren-Larsson Syndrome	NG_007095.2:g.14024G>A; NM_000382.3:c.710G>A; NP_000373.1:p.Cys237Tyr	72547567	631767
NM_000382.3:c.941_943delinsGGGCTAAAAGTACTGTTGGGG	Lebanon	chr17:19663333-19663335	Pathogenic	Pathogenic	Sjogren-Larsson Syndrome	NG_007095.2:g.19583_19585delinsGGGCTAAAAGTACTGTTGGGG; NM_000382.3:c.941_943delinsGGGCTAAAAGTACTGTTGGGG; NP_001356065.1:p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla	730880264	1638

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External Links

https://medlineplus.gov/genetics/gene/aldh3a2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH3A2

Contributors

Pratibha Nair: 28.06.2022
Sayeeda Hana: 04.02.2020

Edit History

Pratibha Nair: 28.06.2022
Sayeeda Hana: 04.02.2020

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