ALDH16A1 - aldehyde dehydrogenase 16 family member A1 Gene

中文名称：醛脱氢酶 16 家族成员 A1

种属: Homo sapiens

基因 ID: 126133 | 基因类型: protein coding

关于 ALDH16A1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,453,225-49,471,050 (from NCBI)

This gene has 8 transcripts (splice variants), 184 orthologues and 17 paralogues. Ubiquitous expression in spleen (RPKM 10.1), duodenum (RPKM 6.6) and 25 other tissues.

功能概要

该基因编码醛脱氢酶超家族的一个成员。该家族成员作用于醛底物，并使用烟酰胺腺嘌呤二核苷酸磷酸 (NADP) 作为辅助因子。该基因在黑猩猩、狗、牛、小鼠、大鼠和斑马鱼中是保守的。由该基因编码的蛋白质与 maspardin 相互作用，maspardin 是一种蛋白质，当被截短时会导致 Mast 综合征。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 4 月]

This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

ALDH16A1 基因产物(2)

mRNA	Protein	Name
NM_001145396.2	NP_001138868.1	aldehyde dehydrogenase family 16 member A1 isoform 2
NM_153329.4	NP_699160.2	aldehyde dehydrogenase family 16 member A1 isoform 1

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ALDH16A1 蛋白结构

Aldedh

0
200
400
600
802 a.a.

蛋白主名

其他名称

aldehyde dehydrogenase family 16 member A1

ALDH16A1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	ALDH16A1	Q8IZ83	DERA	Homo sapiens	Q9Y315	Anti Tag CoIP	35271311
种属内	ALDH16A1	Q8IZ83	DERA	Homo sapiens	Q9Y315	Y2H Prey Pooling	32296183
种属内	ALDH16A1	Q8IZ83	DERA	Homo sapiens	Q9Y315	Validated Y2H	32296183
种属内	ALDH16A1	Q8IZ83	DERA	Homo sapiens	Q9Y315	Y2H Array	32296183
种属内	ALDH16A1	Q8IZ83	DLGAP4	Homo sapiens	Q9Y2H0-1	Y2H Prey Pooling	32296183
种属内	ALDH16A1	Q8IZ83	DLGAP4	Homo sapiens	Q9Y2H0-1	Validated Y2H	32296183
种属内	ALDH16A1	Q8IZ83	DLGAP4	Homo sapiens	Q9Y2H0-1	Y2H Array	32296183
种属内	ALDH16A1	Q8IZ83	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
种属内	ALDH16A1	Q8IZ83	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Mast Syndrome

SPG21	Spastic Paraplegia 21, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia Type 21	Autosomal Recessive Spastic Paraplegia 21
Hereditary Spastic Paraplegia 21

Liver Inflammatory Pseudotumor

Inflammatory Pseudotumor Of The Liver

Liver Inflammatory Myofibroblastic Tumor

Hyperuricemia, Hprt-Related

Hprt-Related Gout	Kelley-Seegmiller Syndrome
Hprt Deficiency, Partial	HRH
Gout, Hprt-Related	Hprt1 Deficiency, Partial
Hrpt-Related Hyperuricemia	Hprt Deficiency, Grade I
Hprt Partial Deficiency	Hprt-Related Hyperuricemia
Hprt1 Partial Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I	Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hyperuricemia, Hrpt-Related

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism	Disorder Of Gaba Metabolism
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Sjogren-Larsson Syndrome

Sjögren-Larsson Syndrome	SLS
Faldh Deficiency	Fatty Aldehyde Dehydrogenase Deficiency
Fatty Acid Alcohol Oxidoreductase Deficiency	Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
Sjogren Larsson Syndrome	Fatty Alcohol:Nad+ Oxidoreductase Deficiency
Sjogren-Larsson'S Syndrome	Fadh Deficiency
Fao Deficiency	Congenital Icthyosis Mental Retardation Spasticity Syndrome
Ichthyosis Oligophrenia Syndrome	Sjoegren-Larsson Syndrome

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria	Ssadh Deficiency
Gamma-Hydroxybutyric Aciduria	Gaba Metabolic Defect
SSADHD	Ssadh
Succinate-Semialdehyde Dehydrogenase Deficiency	Gamma-Hydroxybutyricaciduria
4-Hydroxybutyricaciduria	Gamma-Hydroxybutyric Acidemia
Succinate Semialdehyde Dehydrogenase Deficiency

Hyperprolinemia

Proline Oxidase Deficiency	Hyperprolinemia Type 1
Proline Hydrogenase Deficiency	Prolinemia
Pyrroline Carboxylate Dehydrogenase Deficiency	Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Proline Dehydrogenase Deficiency	Hyperprolinemia Type 2

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00558	ALDH16A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ALDH16A1	VGNC	VGNC:108462
Rattus norvegicus	ALDH16A1	RGD	RGD:1566295
Bos taurus	ALDH16A1	VGNC	VGNC:25806
Felis catus	ALDH16A1	VGNC	VGNC:97344
Canis familiaris	ALDH16A1	VGNC	VGNC:37780
Mus musculus	ALDH16A1	MGD	MGI:1916998

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