AASDHPPT - aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Gene

Homo sapiens

Also known as ACPS; LYS2; LYS5; CGI-80; AASD-PPT

Gene ID: 60496 | Gene type: protein coding

About AASDHPPT

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:106,077,662-106,098,695 (from NCBI)

This gene has 5 transcripts (splice variants) and 213 orthologues. Ubiquitous expression in brain (RPKM 32.8), testis (RPKM 17.4) and 25 other tissues.

Summary

The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]

AASDHPPT Products(1)

mRNA	Protein	Name
NM_015423.3	NP_056238.2	L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

AASDHPPT Protein Structure

ACPS

0
100
200
309 a.a.

Protein Preferred Names

Protein Names

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

4'-phosphopantetheinyl transferase

Related Diseases

Diseases

Alias

Pipecolic Acidemia

Lissencephaly 5

LIS5	Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cobblestone Lissencephaly Without Muscular Or Eye Involvement	Lissencephaly Type 2 Without Muscular Or Eye Involvement
Lissencephaly Type 2 Without Muscular Or Ocular Involvement	Lissencephaly, Type 5

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00032	AASDHPPT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AASDHPPT	MGD	MGI:1914868
Canis familiaris	AASDHPPT	VGNC	VGNC:37418
Felis catus	AASDHPPT	VGNC	VGNC:59457
Rattus norvegicus	AASDHPPT	RGD	RGD:1311360
Macaca mulatta	AASDHPPT	VGNC	VGNC:69394

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