2. Gene
  3. SLC44A4 - solute carrier family 44 member 4 Gene

SLC44A4 - solute carrier family 44 member 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 44 成员 4

种属: Homo sapiens

同用名: CTL4; NG22; TPPT; DFNA72; hTPPT1; C6orf29

基因 ID: 80736 | 基因类型: protein coding

关于 SLC44A4

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,863,192-31,878,997 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 196 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 98.7), stomach (RPKM 72.4) and 9 other tissues.

功能概要

该基因编码的蛋白质可能是一种钠依赖性跨膜转运蛋白，参与胆碱能神经元对胆碱的摄取。该基因的缺陷会导致唾液酸贮积症，这是一种溶酶体贮积病。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供，2010 年 5 月]

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

SLC44A4 基因产物(3)

mRNA Protein Name
NM_001178044.2 NP_001171515.1 choline transporter-like protein 4 isoform 2
NM_001178045.2 NP_001171516.1 choline transporter-like protein 4 isoform 3
NM_025257.3 NP_079533.2 choline transporter-like protein 4 isoform 1

SLC44A4 蛋白结构

Choline_transpo

Choline_transpo: Plasma-membrane choline transporter (312 - 679)

  • 0
  • 200
  • 400
  • 600
  • 710 a.a.
蛋白主名 其他名称

choline transporter-like protein 4

testicular tissue protein Li 48

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 72

DFNA72

Deafness, Autosomal Dominant, 72
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13254 SLC44A4 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 SLC44A4 VGNC VGNC:77472
Mus musculus SLC44A4 MGD MGI:1917379
Felis catus SLC44A4 VGNC VGNC:65374
Bos taurus SLC44A4 VGNC VGNC:34878
Canis familiaris SLC44A4 VGNC VGNC:46420
Rattus norvegicus SLC44A4 RGD RGD:1303167
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