2. Gene
  3. CHML - CHM like Rab escort protein Gene

CHML - CHM like Rab escort protein Gene

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

中文名称：CHM 样 Rab 护送蛋白

种属: Homo sapiens

同用名: REP2

基因 ID: 1122 | 基因类型: protein coding

关于 CHML

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:241,628,851-241,640,369 (from NCBI)

This gene has 5 transcripts (splice variants), 155 orthologues and 3 paralogues.

功能概要

CHML 基因的产物支持大多数 Rab 蛋白的香叶基香叶基化，并可能替代视网膜以外组织中的 REP-1。 CHML 位于靠近 II 型 Usher 综合征的基因处。[RefSeq 提供，2008 年 7 月]

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues Other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]

CHML 基因产物(3)

mRNA Protein Name
NM_001381853.1 NP_001368782.1 rab proteins geranylgeranyltransferase component A 2
NM_001381854.1 NP_001368783.1 rab proteins geranylgeranyltransferase component A 2
NM_001821.4 NP_001812.2 rab proteins geranylgeranyltransferase component A 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables small GTPase binding IDA
IDA: 通过直接分析推断
15186776 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
15186776 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein geranylgeranylation IDA
IDA: 通过直接分析推断
15186776 GOA
involved in protein geranylgeranylation IMP
IMP: 通过突变表型推断
12356470 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Rab-protein geranylgeranyltransferase complex IMP
IMP: 通过突变表型推断
12356470 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

CHML 蛋白结构

GDI

GDI: GDP dissociation inhibitor (6 - 67)

GDI

GDI: GDP dissociation inhibitor (223 - 533)

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

rab proteins geranylgeranyltransferase component A 2

CHM like Rab escort protein 2

关联疾病

疾病名称 别名
Choroideremia

CHM

Tcd

Progressive Tapetochoroidal Dystrophy

Choroidal Sclerosis

Tapetochoroidal Dystrophy, Progressive

Progressive Choroidal Atrophy

Tapetochoroidal Dystrophy
Holoprosencephaly 6

HPE6
Choroid Disease

Choroid Diseases

Abnormality Of The Choroid
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Holoprosencephaly 2

HPE2

Holoprosencephaly-2

Holoprosencephaly, Type 2
Dilated Cardiomyopathy 1t

Cmd1t

Cardiomyopathy, Dilated, 1t
Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b

PHP1B

Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Type Ib

Php Ib

Pseudohypoparathyroidism 1b
Uveal Disease

Uveal Diseases
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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-RS02637 CHML Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CHML VGNC VGNC:27298
Rattus norvegicus CHML RGD RGD:1596201
Mus musculus CHML MGD MGI:101913
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